Canonical Allele Identifier: CA6650622

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512789C>T , CM000674.2:g.57512789C>T	GRCh38
NC_000012.11:g.57906572C>T , CM000674.1:g.57906572C>T	GRCh37
NC_000012.10:g.56192839C>T	NCBI36
NG_034077.1:g.29837C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.1792C>T MANE Select	NP_004981.2:p.Arg598Cys
ENST00000262027.10:c.1792C>T MANE Select	ENSP00000262027.5:p.Arg598Cys
NM_004990.3:c.1792C>T	NP_004981.2:p.Arg598Cys
ENST00000262027.9:c.1792C>T	ENSP00000262027.5:p.Arg598Cys
ENST00000537638.6:c.*84C>T	ENSP00000446168.2:n.*84C>T
ENST00000545888.6:c.*1293C>T	ENSP00000439307.2:n.*1293C>T
ENST00000546971.5:n.536C>T
ENST00000548202.5:n.299C>T
ENST00000548944.1:c.134-3706C>T	ENSP00000449071.1:n.134-3706C>T
ENST00000549048.1:n.457C>T
ENST00000628866.2:c.*1293C>T	ENSP00000486738.1:n.*1293C>T
XM_006719398.2:c.1090C>T	XP_006719461.1:p.Arg364Cys
XM_006719398.4:c.1090C>T	XP_006719461.1:p.Arg364Cys
XM_011538353.1:c.*84C>T	XP_011536655.1:n.*84C>T
XR_001748704.2:n.1748C>T
XR_002957327.1:n.1739C>T