Canonical Allele Identifier: CA348653717

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136700984G>T (hg19) ; chr2:g.135943414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135943414G>T , CM000664.2:g.135943414G>T	GRCh38
NC_000002.11:g.136700984G>T , CM000664.1:g.136700984G>T	GRCh37
NC_000002.10:g.136417454G>T	NCBI36
NG_034149.1:g.47271C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264161.9:c.387C>A MANE Select	ENSP00000264161.4:p.Ser129Arg
ENST00000264161.8:c.387C>A	ENSP00000264161.4:p.Ser129Arg
ENST00000435076.1:c.482C>A
ENST00000441323.5:c.288C>A	ENSP00000389867.1:p.Ser96Arg
ENST00000449218.5:c.288C>A	ENSP00000388801.1:p.Ser96Arg
ENST00000456565.5:c.288C>A	ENSP00000397616.1:p.Ser96Arg
ENST00000463008.1:n.384C>A
NM_001293312.1:c.87C>A	NP_001280241.1:p.Ser29Arg
NM_001349.3:c.387C>A	NP_001340.2:p.Ser129Arg
NM_001349.4:c.387C>A MANE Select	NP_001340.2:p.Ser129Arg