Canonical Allele Identifier: CA6650258

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57490554C>T , CM000674.2:g.57490554C>T	GRCh38
NC_000012.11:g.57884337C>T , CM000674.1:g.57884337C>T	GRCh37
NC_000012.10:g.56170604C>T	NCBI36
NG_034077.1:g.7602C>T
NG_023205.2:g.3261G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.680C>T MANE Select	NP_004981.2:p.Thr227Ile
ENST00000262027.10:c.680C>T MANE Select	ENSP00000262027.5:p.Thr227Ile
NM_004990.3:c.680C>T	NP_004981.2:p.Thr227Ile
ENST00000262027.9:c.680C>T	ENSP00000262027.5:p.Thr227Ile
ENST00000447721.6:n.322C>T
ENST00000537638.6:c.680C>T	ENSP00000446168.2:p.Thr227Ile
ENST00000545888.6:c.*181C>T	ENSP00000439307.2:n.*181C>T
ENST00000548674.5:n.574C>T
ENST00000549074.5:c.*45C>T	ENSP00000447258.1:n.*45C>T
ENST00000551431.5:c.*181C>T	ENSP00000446729.1:n.*181C>T
ENST00000551892.1:c.*45C>T	ENSP00000450018.1:n.*45C>T
ENST00000552371.1:c.295C>T
ENST00000628866.2:c.*181C>T	ENSP00000486738.1:n.*181C>T
XM_006719398.2:c.-23C>T	XP_006719461.1:n.-23C>T
XM_006719398.4:c.-23C>T	XP_006719461.1:n.-23C>T
XM_011538353.1:c.680C>T	XP_011536655.1:p.Thr227Ile
XR_001748704.2:n.703C>T
XR_002957327.1:n.627C>T