Canonical Allele Identifier: CA6650783

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57515335C>T , CM000674.2:g.57515335C>T	GRCh38
NC_000012.11:g.57909118C>T , CM000674.1:g.57909118C>T	GRCh37
NC_000012.10:g.56195385C>T	NCBI36
NG_027674.1:g.10183G>A
NG_034077.1:g.32383C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.2390C>T MANE Select	NP_004981.2:p.Thr797Ile
ENST00000262027.10:c.2390C>T MANE Select	ENSP00000262027.5:p.Thr797Ile
NM_004990.3:c.2390C>T	NP_004981.2:p.Thr797Ile
ENST00000262027.9:c.2390C>T	ENSP00000262027.5:p.Thr797Ile
ENST00000537638.6:c.*682C>T	ENSP00000446168.2:n.*682C>T
ENST00000545888.6:c.*1891C>T	ENSP00000439307.2:n.*1891C>T
ENST00000547665.5:c.186C>T
ENST00000548944.1:c.134-1160C>T	ENSP00000449071.1:n.134-1160C>T
ENST00000551172.1:c.153C>T
ENST00000551805.1:n.321C>T
ENST00000552499.5:c.155C>T	ENSP00000447335.1:p.Thr52Ile
ENST00000552914.5:c.347C>T	ENSP00000449787.1:p.Thr116Ile
ENST00000628866.2:c.*1891C>T	ENSP00000486738.1:n.*1891C>T
XM_006719398.2:c.1688C>T	XP_006719461.1:p.Thr563Ile
XM_006719398.4:c.1688C>T	XP_006719461.1:p.Thr563Ile
XR_001748704.2:n.2346C>T
XR_002957327.1:n.2337C>T