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Chromosome X - NC_000023.11
Genomic Sequence: NC_000023.11 Chromosome X Reference GRCh38.p14 Primary Assembly NG_007119.1 RefSeqGene NC_060947.1 Chromosome X Alternate T2T-CHM13v2.0 NC_000023.10 Chromosome X Reference GRCh37.p13 Primary Assembly NW_004070883.1 Chromosome X Reference GRCh37.p13 PATCHES
Go to nucleotide: Graphics FASTA GenBank
See all (293) citations in PubMed
Find tests for this gene in the NIH Genetic Testing Registry (GTR)
Review eQTL and phenotype association data in this region using PheGenI
The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in GLA that are pathogenic or expected to be pathogenic.
No evidence available (Last evaluated 2021-03-24)
Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)
See variants in ClinVar
See studies and variants in dbVar
See Variation Viewer (GRCh37.p13)
See Variation Viewer (GRCh38)
NEW Try the new Transcript table
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.
NG_007119.1 RefSeqGene
NM_000169.3 → NP_000160.1 alpha-galactosidase A isoform b precursor
See identical proteins and their annotated locations for NP_000160.1
Status: REVIEWED
NM_001406747.1 → NP_001393676.1 alpha-galactosidase A isoform a precursor
NM_001406748.1 → NP_001393677.1 alpha-galactosidase A isoform c precursor
NM_001406749.1 → NP_001393678.1 alpha-galactosidase A isoform d precursor
NR_164783.1 RNA Sequence
NR_176252.1 RNA Sequence
NR_176253.1 RNA Sequence
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.
NC_000023.11 Reference GRCh38.p14 Primary Assembly
XM_047441990.1 → XP_047297946.1 alpha-galactosidase A isoform X1
NC_060947.1 Alternate T2T-CHM13v2.0
XM_054326833.1 → XP_054182808.1 alpha-galactosidase A isoform X1
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