ClinVar

NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)

Genes:

LOC129994848:ATAC-STARR-seq lymphoblastoid active region 23285 [Gene]
HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140691265 (on Assembly GRCh38)
• Chr5: 140070850 (on Assembly GRCh37)

Preferred name:

NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)

HGVS:

• NC_000005.10:g.140691265G>T
• NG_021415.1:g.4833G>T
• NG_032158.1:g.5122C>A
• NG_070993.1:g.61G>T
• NM_001258040.3:c.40C>A
• NM_001258041.3:c.40C>A
• NM_001258042.3:c.40C>A
• NM_001289092.2:c.40C>A
• NM_001289093.2:c.40C>A
• NM_001289094.2:c.3+37C>A
• NM_002109.6:c.40C>AMANE SELECT
• NP_001244969.1:p.Gln14Lys
• NP_001244970.1:p.Gln14Lys
• NP_001244971.1:p.Gln14Lys
• NP_001276021.1:p.Gln14Lys
• NP_001276022.1:p.Gln14Lys
• NP_002100.2:p.Gln14Lys
• LRG_1374t1:c.40C>A
• LRG_1374:g.5122C>A
• LRG_1374p1:p.Gln14Lys
• LRG_1376:g.4833G>T
• NC_000005.9:g.140070850G>T
• NM_002109.5:c.40C>A

This HGVS expression did not pass validation

Protein change:

Q14K

Links:

dbSNP: rs117579809

NCBI 1000 Genomes Browser:

rs117579809

Molecular consequence:

• NM_001289094.2:c.3+37C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258040.3:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258041.3:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258042.3:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289092.2:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289093.2:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002109.6:c.40C>A - missense variant - [Sequence Ontology: SO:0001583]