Canonical Allele Identifier: CA480258741

Gene: MARS1

Linked Data

• dbSNP Id: rs149742633
• gnomAD v2: 12-57906610-G-C
• gnomAD v4: 12-57512827-G-C
• MyVariant Identifiers: chr12:g.57906610G>C (hg19) ; chr12:g.57512827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512827G>C , CM000674.2:g.57512827G>C	GRCh38
NC_000012.11:g.57906610G>C , CM000674.1:g.57906610G>C	GRCh37
NC_000012.10:g.56192877G>C	NCBI36
NG_034077.1:g.29875G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1830G>C MANE Select	ENSP00000262027.5:p.Thr610=
ENST00000262027.9:c.1830G>C	ENSP00000262027.5:p.Thr610=
ENST00000537638.6:c.*122G>C	ENSP00000446168.2:n.*122G>C
ENST00000545888.6:c.*1331G>C	ENSP00000439307.2:n.*1331G>C
ENST00000546971.5:n.574G>C
ENST00000548202.5:n.337G>C
ENST00000548944.1:c.134-3668G>C	ENSP00000449071.1:n.134-3668G>C
ENST00000549048.1:n.495G>C
ENST00000628866.2:c.*1331G>C	ENSP00000486738.1:n.*1331G>C
NM_004990.3:c.1830G>C	NP_004981.2:p.Thr610=
XM_006719398.2:c.1128G>C	XP_006719461.1:p.Thr376=
XM_011538353.1:c.*122G>C	XP_011536655.1:n.*122G>C
XM_006719398.4:c.1128G>C	XP_006719461.1:p.Thr376=
XR_001748704.2:n.1786G>C
XR_002957327.1:n.1777G>C
NM_004990.4:c.1830G>C MANE Select	NP_004981.2:p.Thr610=