Canonical Allele Identifier: CA385490429

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57882855A>C (hg19) ; chr12:g.57489072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489072A>C , CM000674.2:g.57489072A>C	GRCh38
NC_000012.11:g.57882855A>C , CM000674.1:g.57882855A>C	GRCh37
NC_000012.10:g.56169122A>C	NCBI36
NG_034077.1:g.6120A>C
NG_023205.2:g.4743T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.163A>C MANE Select	ENSP00000262027.5:p.Ser55Arg
ENST00000262027.9:c.163A>C	ENSP00000262027.5:p.Ser55Arg
ENST00000447721.6:n.132+873A>C
ENST00000537638.6:c.163A>C	ENSP00000446168.2:p.Ser55Arg
ENST00000545888.6:c.163A>C	ENSP00000439307.2:p.Ser55Arg
ENST00000546481.1:n.192A>C
ENST00000547062.5:n.186A>C
ENST00000547501.5:c.163A>C	ENSP00000447145.1:p.Ser55Arg
ENST00000548146.1:n.504A>C
ENST00000548674.5:n.133A>C
ENST00000548714.5:n.186A>C
ENST00000549074.5:c.163A>C	ENSP00000447258.1:p.Ser55Arg
ENST00000550449.5:n.198A>C
ENST00000551431.5:c.163A>C	ENSP00000446729.1:p.Ser55Arg
ENST00000551842.5:n.186A>C
ENST00000551892.1:c.109+873A>C	ENSP00000450018.1:n.109+873A>C
ENST00000552007.5:c.163A>C	ENSP00000448576.1:p.Ser55Arg
ENST00000553123.1:n.387A>C
ENST00000553162.5:n.186A>C
ENST00000628866.2:c.163A>C	ENSP00000486738.1:p.Ser55Arg
ENST00000630571.2:c.163A>C	ENSP00000485951.1:p.Ser55Arg
ENST00000630803.1:c.109+873A>C	ENSP00000486356.1:n.109+873A>C
NM_004990.3:c.163A>C	NP_004981.2:p.Ser55Arg
XM_006719398.2:c.-464A>C	XP_006719461.1:n.-464A>C
XM_011538353.1:c.163A>C	XP_011536655.1:p.Ser55Arg
XM_006719398.4:c.-464A>C	XP_006719461.1:n.-464A>C
XR_001748704.2:n.186A>C
XR_002957327.1:n.186A>C
NM_004990.4:c.163A>C MANE Select	NP_004981.2:p.Ser55Arg