Canonical Allele Identifier: CA480395774

Gene: MARS1

Linked Data

• dbSNP Id: rs1267654572
• gnomAD v2: 12-57905835-C-T
• gnomAD v4: 12-57512052-C-T
• MyVariant Identifiers: chr12:g.57905835C>T (hg19) ; chr12:g.57512052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512052C>T , CM000674.2:g.57512052C>T	GRCh38
NC_000012.11:g.57905835C>T , CM000674.1:g.57905835C>T	GRCh37
NC_000012.10:g.56192102C>T	NCBI36
NG_034077.1:g.29100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1584C>T MANE Select	ENSP00000262027.5:p.Ile528=
ENST00000262027.9:c.1584C>T	ENSP00000262027.5:p.Ile528=
ENST00000447721.6:n.1226C>T
ENST00000537638.6:c.1584C>T	ENSP00000446168.2:p.Ile528=
ENST00000545888.6:c.*1085C>T	ENSP00000439307.2:n.*1085C>T
ENST00000546971.5:n.328C>T
ENST00000548630.1:n.145C>T
ENST00000548944.1:c.134-4443C>T	ENSP00000449071.1:n.134-4443C>T
ENST00000549048.1:n.117C>T
ENST00000628866.2:c.*1085C>T	ENSP00000486738.1:n.*1085C>T
NM_004990.3:c.1584C>T	NP_004981.2:p.Ile528=
XM_006719398.2:c.882C>T	XP_006719461.1:p.Ile294=
XM_011538353.1:c.1584C>T	XP_011536655.1:p.Ile528=
XM_006719398.4:c.882C>T	XP_006719461.1:p.Ile294=
XR_001748704.2:n.1607C>T
XR_002957327.1:n.1531C>T
NM_004990.4:c.1584C>T MANE Select	NP_004981.2:p.Ile528=