Canonical Allele Identifier: CA385490436

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57882857C>A (hg19) ; chr12:g.57489074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489074C>A , CM000674.2:g.57489074C>A	GRCh38
NC_000012.11:g.57882857C>A , CM000674.1:g.57882857C>A	GRCh37
NC_000012.10:g.56169124C>A	NCBI36
NG_034077.1:g.6122C>A
NG_023205.2:g.4741G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.165C>A MANE Select	ENSP00000262027.5:p.Ser55Arg
ENST00000262027.9:c.165C>A	ENSP00000262027.5:p.Ser55Arg
ENST00000447721.6:n.132+875C>A
ENST00000537638.6:c.165C>A	ENSP00000446168.2:p.Ser55Arg
ENST00000545888.6:c.165C>A	ENSP00000439307.2:p.Ser55Arg
ENST00000546481.1:n.194C>A
ENST00000547062.5:n.188C>A
ENST00000547501.5:c.165C>A	ENSP00000447145.1:p.Ser55Arg
ENST00000548146.1:n.506C>A
ENST00000548674.5:n.135C>A
ENST00000548714.5:n.188C>A
ENST00000549074.5:c.165C>A	ENSP00000447258.1:p.Ser55Arg
ENST00000550449.5:n.200C>A
ENST00000551431.5:c.165C>A	ENSP00000446729.1:p.Ser55Arg
ENST00000551842.5:n.188C>A
ENST00000551892.1:c.109+875C>A	ENSP00000450018.1:n.109+875C>A
ENST00000552007.5:c.165C>A	ENSP00000448576.1:p.Ser55Arg
ENST00000553123.1:n.389C>A
ENST00000553162.5:n.188C>A
ENST00000628866.2:c.165C>A	ENSP00000486738.1:p.Ser55Arg
ENST00000630571.2:c.165C>A	ENSP00000485951.1:p.Ser55Arg
ENST00000630803.1:c.109+875C>A	ENSP00000486356.1:n.109+875C>A
NM_004990.3:c.165C>A	NP_004981.2:p.Ser55Arg
XM_006719398.2:c.-462C>A	XP_006719461.1:n.-462C>A
XM_011538353.1:c.165C>A	XP_011536655.1:p.Ser55Arg
XM_006719398.4:c.-462C>A	XP_006719461.1:n.-462C>A
XR_001748704.2:n.188C>A
XR_002957327.1:n.188C>A
NM_004990.4:c.165C>A MANE Select	NP_004981.2:p.Ser55Arg