Canonical Allele Identifier: CA237758672

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57500409C>T , CM000674.2:g.57500409C>T	GRCh38
NC_000012.11:g.57894192C>T , CM000674.1:g.57894192C>T	GRCh37
NC_000012.10:g.56180459C>T	NCBI36
NG_034077.1:g.17457C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.1180C>T MANE Select	NP_004981.2:p.Arg394Cys
ENST00000262027.10:c.1180C>T MANE Select	ENSP00000262027.5:p.Arg394Cys
NM_004990.3:c.1180C>T	NP_004981.2:p.Arg394Cys
ENST00000262027.9:c.1180C>T	ENSP00000262027.5:p.Arg394Cys
ENST00000447721.6:n.822C>T
ENST00000537638.6:c.1180C>T	ENSP00000446168.2:p.Arg394Cys
ENST00000545888.6:c.*681C>T	ENSP00000439307.2:n.*681C>T
ENST00000548944.1:c.52C>T	ENSP00000449071.1:p.Arg18Cys
ENST00000549827.1:n.296C>T
ENST00000551892.1:c.*545C>T	ENSP00000450018.1:n.*545C>T
ENST00000552371.1:c.678C>T
ENST00000628866.2:c.*681C>T	ENSP00000486738.1:n.*681C>T
XM_006719398.2:c.478C>T	XP_006719461.1:p.Arg160Cys
XM_006719398.4:c.478C>T	XP_006719461.1:p.Arg160Cys
XM_011538353.1:c.1180C>T	XP_011536655.1:p.Arg394Cys
XR_001748704.2:n.1203C>T
XR_002957327.1:n.1127C>T