Canonical Allele Identifier: CA348606661

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136664896A>T (hg19) ; chr2:g.135907326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135907326A>T , CM000664.2:g.135907326A>T	GRCh38
NC_000002.11:g.136664896A>T , CM000664.1:g.136664896A>T	GRCh37
NC_000002.10:g.136381366A>T	NCBI36
NG_034149.1:g.83359T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.1496T>A MANE Select	ENSP00000264161.4:p.Leu499His
ENST00000264161.8:c.1496T>A	ENSP00000264161.4:p.Leu499His
ENST00000422708.3:c.557T>A	ENSP00000387508.1:p.Leu186His
ENST00000478212.5:n.390T>A
ENST00000489964.5:n.745T>A
NM_001293312.1:c.1196T>A	NP_001280241.1:p.Leu399His
NM_001349.3:c.1496T>A	NP_001340.2:p.Leu499His
NM_001349.4:c.1496T>A MANE Select	NP_001340.2:p.Leu499His