Canonical Allele Identifier: CA6650720

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57514992G>A , CM000674.2:g.57514992G>A	GRCh38
NC_000012.11:g.57908775G>A , CM000674.1:g.57908775G>A	GRCh37
NC_000012.10:g.56195042G>A	NCBI36
NG_027674.1:g.10526C>T
NG_034077.1:g.32040G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.2138G>A MANE Select	NP_004981.2:p.Arg713Gln
ENST00000262027.10:c.2138G>A MANE Select	ENSP00000262027.5:p.Arg713Gln
NM_004990.3:c.2138G>A	NP_004981.2:p.Arg713Gln
ENST00000262027.9:c.2138G>A	ENSP00000262027.5:p.Arg713Gln
ENST00000537638.6:c.*430G>A	ENSP00000446168.2:n.*430G>A
ENST00000545888.6:c.*1639G>A	ENSP00000439307.2:n.*1639G>A
ENST00000548202.5:n.645G>A
ENST00000548944.1:c.134-1503G>A	ENSP00000449071.1:n.134-1503G>A
ENST00000551805.1:n.69G>A
ENST00000552914.5:c.206G>A	ENSP00000449787.1:p.Arg69Gln
ENST00000628866.2:c.*1639G>A	ENSP00000486738.1:n.*1639G>A
XM_006719398.2:c.1436G>A	XP_006719461.1:p.Arg479Gln
XM_006719398.4:c.1436G>A	XP_006719461.1:p.Arg479Gln
XR_001748704.2:n.2094G>A
XR_002957327.1:n.2085G>A