Canonical Allele Identifier: CA10575582

Gene: DARS1

Linked Data

• ClinVar Variation Id: 50988
• ClinVar RCV Id: RCV000043684
• dbSNP Id: rs886037635
• gnomAD v3: 2-135922829-T-G
• gnomAD v4: 2-135922829-T-G
• MyVariant Identifiers: chr2:g.136680399T>G (hg19) ; chr2:g.135922829T>G (hg38)
• PubMed: PMID:23643384

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135922829T>G , CM000664.2:g.135922829T>G	GRCh38
NC_000002.11:g.136680399T>G , CM000664.1:g.136680399T>G	GRCh37
NC_000002.10:g.136396869T>G	NCBI36
NG_034149.1:g.67856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.766A>C MANE Select	ENSP00000264161.4:p.Met256Leu
ENST00000264161.8:c.766A>C	ENSP00000264161.4:p.Met256Leu
NM_001293312.1:c.466A>C	NP_001280241.1:p.Met156Leu
NM_001349.3:c.766A>C	NP_001340.2:p.Met256Leu
NM_001349.4:c.766A>C MANE Select	NP_001340.2:p.Met256Leu