Canonical Allele Identifier: CA348653750

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136700992T>A (hg19) ; chr2:g.135943422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135943422T>A , CM000664.2:g.135943422T>A	GRCh38
NC_000002.11:g.136700992T>A , CM000664.1:g.136700992T>A	GRCh37
NC_000002.10:g.136417462T>A	NCBI36
NG_034149.1:g.47263A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264161.9:c.379A>T MANE Select	ENSP00000264161.4:p.Ile127Phe
ENST00000264161.8:c.379A>T	ENSP00000264161.4:p.Ile127Phe
ENST00000435076.1:c.474A>T
ENST00000441323.5:c.280A>T	ENSP00000389867.1:p.Ile94Phe
ENST00000449218.5:c.280A>T	ENSP00000388801.1:p.Ile94Phe
ENST00000456565.5:c.280A>T	ENSP00000397616.1:p.Ile94Phe
ENST00000463008.1:n.376A>T
NM_001293312.1:c.79A>T	NP_001280241.1:p.Ile27Phe
NM_001349.3:c.379A>T	NP_001340.2:p.Ile127Phe
NM_001349.4:c.379A>T MANE Select	NP_001340.2:p.Ile127Phe