Canonical Allele Identifier: CA385491162

Gene: MARS1

Linked Data

• dbSNP Id: rs774655266
• MyVariant Identifiers: chr12:g.57883255G>A (hg19) ; chr12:g.57489472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489472G>A , CM000674.2:g.57489472G>A	GRCh38
NC_000012.11:g.57883255G>A , CM000674.1:g.57883255G>A	GRCh37
NC_000012.10:g.56169522G>A	NCBI36
NG_034077.1:g.6520G>A
NG_023205.2:g.4343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.328G>A MANE Select	ENSP00000262027.5:p.Gly110Arg
ENST00000262027.9:c.328G>A	ENSP00000262027.5:p.Gly110Arg
ENST00000447721.6:n.133-735G>A
ENST00000537638.6:c.328G>A	ENSP00000446168.2:p.Gly110Arg
ENST00000545888.6:c.328G>A	ENSP00000439307.2:p.Gly110Arg
ENST00000546481.1:n.514G>A
ENST00000547501.5:c.297G>A	ENSP00000447145.1:p.Arg99=
ENST00000548674.5:n.298G>A
ENST00000548714.5:n.429G>A
ENST00000549074.5:c.200+363G>A	ENSP00000447258.1:n.200+363G>A
ENST00000550449.5:n.441G>A
ENST00000551431.5:c.279+127G>A	ENSP00000446729.1:n.279+127G>A
ENST00000551842.5:n.351G>A
ENST00000551892.1:c.110-806G>A	ENSP00000450018.1:n.110-806G>A
ENST00000552007.5:c.200+363G>A	ENSP00000448576.1:n.200+363G>A
ENST00000553123.1:n.552G>A
ENST00000553162.5:n.351G>A
ENST00000628866.2:c.279+127G>A	ENSP00000486738.1:n.279+127G>A
ENST00000630571.2:c.200+363G>A	ENSP00000485951.1:n.200+363G>A
ENST00000630803.1:c.110-806G>A	ENSP00000486356.1:n.110-806G>A
NM_004990.3:c.328G>A	NP_004981.2:p.Gly110Arg
XM_006719398.2:c.-299G>A	XP_006719461.1:n.-299G>A
XM_011538353.1:c.328G>A	XP_011536655.1:p.Gly110Arg
XM_006719398.4:c.-299G>A	XP_006719461.1:n.-299G>A
XR_001748704.2:n.351G>A
XR_002957327.1:n.351G>A
NM_004990.4:c.328G>A MANE Select	NP_004981.2:p.Gly110Arg