Canonical Allele Identifier: CA348606710

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136664908T>A (hg19) ; chr2:g.135907338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135907338T>A , CM000664.2:g.135907338T>A	GRCh38
NC_000002.11:g.136664908T>A , CM000664.1:g.136664908T>A	GRCh37
NC_000002.10:g.136381378T>A	NCBI36
NG_034149.1:g.83347A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.1484A>T MANE Select	ENSP00000264161.4:p.Asp495Val
ENST00000264161.8:c.1484A>T	ENSP00000264161.4:p.Asp495Val
ENST00000422708.3:c.545A>T	ENSP00000387508.1:p.Asp182Val
ENST00000478212.5:n.378A>T
ENST00000489964.5:n.733A>T
NM_001293312.1:c.1184A>T	NP_001280241.1:p.Asp395Val
NM_001349.3:c.1484A>T	NP_001340.2:p.Asp495Val
NM_001349.4:c.1484A>T MANE Select	NP_001340.2:p.Asp495Val