Canonical Allele Identifier: CA348653743

Gene: DARS1

Linked Data

• MyVariant Identifiers: chr2:g.136700991A>C (hg19) ; chr2:g.135943421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135943421A>C , CM000664.2:g.135943421A>C	GRCh38
NC_000002.11:g.136700991A>C , CM000664.1:g.136700991A>C	GRCh37
NC_000002.10:g.136417461A>C	NCBI36
NG_034149.1:g.47264T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264161.9:c.380T>G MANE Select	ENSP00000264161.4:p.Ile127Ser
ENST00000264161.8:c.380T>G	ENSP00000264161.4:p.Ile127Ser
ENST00000435076.1:c.475T>G
ENST00000441323.5:c.281T>G	ENSP00000389867.1:p.Ile94Ser
ENST00000449218.5:c.281T>G	ENSP00000388801.1:p.Ile94Ser
ENST00000456565.5:c.281T>G	ENSP00000397616.1:p.Ile94Ser
ENST00000463008.1:n.377T>G
NM_001293312.1:c.80T>G	NP_001280241.1:p.Ile27Ser
NM_001349.3:c.380T>G	NP_001340.2:p.Ile127Ser
NM_001349.4:c.380T>G MANE Select	NP_001340.2:p.Ile127Ser