Canonical Allele Identifier: CA348606774

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136664923G>A (hg19) ; chr2:g.135907353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135907353G>A , CM000664.2:g.135907353G>A	GRCh38
NC_000002.11:g.136664923G>A , CM000664.1:g.136664923G>A	GRCh37
NC_000002.10:g.136381393G>A	NCBI36
NG_034149.1:g.83332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.1469C>T MANE Select	ENSP00000264161.4:p.Ser490Phe
ENST00000264161.8:c.1469C>T	ENSP00000264161.4:p.Ser490Phe
ENST00000422708.3:c.530C>T	ENSP00000387508.1:p.Ser177Phe
ENST00000478212.5:n.363C>T
ENST00000489964.5:n.718C>T
NM_001293312.1:c.1169C>T	NP_001280241.1:p.Ser390Phe
NM_001349.3:c.1469C>T	NP_001340.2:p.Ser490Phe
NM_001349.4:c.1469C>T MANE Select	NP_001340.2:p.Ser490Phe