Canonical Allele Identifier: CA480258707

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57906592G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512809G>C , CM000674.2:g.57512809G>C	GRCh38
NC_000012.11:g.57906592G>C , CM000674.1:g.57906592G>C	GRCh37
NC_000012.10:g.56192859G>C	NCBI36
NG_034077.1:g.29857G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1812G>C MANE Select	ENSP00000262027.5:p.Gly604=
ENST00000262027.9:c.1812G>C	ENSP00000262027.5:p.Gly604=
ENST00000537638.6:c.*104G>C	ENSP00000446168.2:n.*104G>C
ENST00000545888.6:c.*1313G>C	ENSP00000439307.2:n.*1313G>C
ENST00000546971.5:n.556G>C
ENST00000548202.5:n.319G>C
ENST00000548944.1:c.134-3686G>C	ENSP00000449071.1:n.134-3686G>C
ENST00000549048.1:n.477G>C
ENST00000628866.2:c.*1313G>C	ENSP00000486738.1:n.*1313G>C
NM_004990.3:c.1812G>C	NP_004981.2:p.Gly604=
XM_006719398.2:c.1110G>C	XP_006719461.1:p.Gly370=
XM_011538353.1:c.*104G>C	XP_011536655.1:n.*104G>C
XM_006719398.4:c.1110G>C	XP_006719461.1:p.Gly370=
XR_001748704.2:n.1768G>C
XR_002957327.1:n.1759G>C
NM_004990.4:c.1812G>C MANE Select	NP_004981.2:p.Gly604=