Canonical Allele Identifier: CA143918
Gene: DARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50989
ClinVar RCV Id: RCV000043685 RCV000414077
dbSNP Id: rs587776984
gnomAD v2: 2-136664933-G-A
gnomAD v3: 2-135907363-G-A
gnomAD v4: 2-135907363-G-A
MyVariant Identifiers: chr2:g.136664933G>A (hg19) chr2:g.135907363G>A (hg38)
PubMed: PMID:23643384
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135907363G>A , CM000664.2:g.135907363G>A GRCh38
NC_000002.11:g.136664933G>A , CM000664.1:g.136664933G>A GRCh37
NC_000002.10:g.136381403G>A NCBI36
NG_034149.1:g.83322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264161.9:c.1459C>T MANE Select ENSP00000264161.4:p.Arg487Cys
ENST00000264161.8:c.1459C>T ENSP00000264161.4:p.Arg487Cys
ENST00000422708.3:c.520C>T ENSP00000387508.1:p.Arg174Cys
ENST00000478212.5:n.353C>T
ENST00000489964.5:n.708C>T
NM_001293312.1:c.1159C>T NP_001280241.1:p.Arg387Cys
NM_001349.3:c.1459C>T NP_001340.2:p.Arg487Cys
NM_001349.4:c.1459C>T MANE Select NP_001340.2:p.Arg487Cys
Search 100 bp 5'
Search 100 bp 3'