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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
mRNA and Protein(s)
-
NM_001318006.2 → NP_001304935.1 TLC domain-containing protein 3A isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2, also known as CT120B) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
- Source sequence(s)
-
AA055841, AC087392, BC026023
- Consensus CDS
-
CCDS82031.1
- UniProtKB/Swiss-Prot
-
Q8TBR7
- Related
- ENSP00000301324.8, ENST00000301324.8
- Conserved Domains (1) summary
-
- smart00724
Location:33 → 217
- TLC; TRAM, LAG1 and CLN8 homology domains
-
NM_001318007.2 → NP_001304936.1 TLC domain-containing protein 3A isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
- Source sequence(s)
-
AA055841, AC087392, AK025935, BX389422, CN259418
- UniProtKB/Swiss-Prot
-
Q8TBR7
-
NM_001318008.2 → NP_001304937.1 TLC domain-containing protein 3A isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
- Source sequence(s)
-
AA055841, AC087392, AK025935, CN259418
- Consensus CDS
-
CCDS82032.1
- UniProtKB/TrEMBL
-
I3L336
- Related
- ENSP00000460150.1, ENST00000572018.5
-
NM_024792.3 → NP_079068.1 TLC domain-containing protein 3A isoform 1
See identical proteins and their annotated locations for NP_079068.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1, also known as CT120A) represents the longest transcript and encodes the longest isoform (1).
- Source sequence(s)
-
AA055841, AC087392, AK025935, CN259418
- Consensus CDS
-
CCDS10996.1
- UniProtKB/Swiss-Prot
- A8K7Q0, Q7Z464, Q8TBR7, Q96D97, Q9H6H3
- Related
- ENSP00000312017.7, ENST00000308278.13
- Conserved Domains (1) summary
-
- smart00724
Location:33 → 249
- TLC; TRAM, LAG1 and CLN8 homology domains
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000017.11 Reference GRCh38.p14 Primary Assembly
- Range
-
732596..742968
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060941.1 Alternate T2T-CHM13v2.0
- Range
-
617519..628045
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054317265.1 → XP_054173240.1 TLC domain-containing protein 3A isoform X1
- UniProtKB/TrEMBL
-
B3KWJ4