Canonical Allele Identifier: CA6650429

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57500356G>A , CM000674.2:g.57500356G>A	GRCh38
NC_000012.11:g.57894139G>A , CM000674.1:g.57894139G>A	GRCh37
NC_000012.10:g.56180406G>A	NCBI36
NG_034077.1:g.17404G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.1127G>A MANE Select	NP_004981.2:p.Arg376Gln
ENST00000262027.10:c.1127G>A MANE Select	ENSP00000262027.5:p.Arg376Gln
NM_004990.3:c.1127G>A	NP_004981.2:p.Arg376Gln
ENST00000262027.9:c.1127G>A	ENSP00000262027.5:p.Arg376Gln
ENST00000447721.6:n.769G>A
ENST00000537638.6:c.1127G>A	ENSP00000446168.2:p.Arg376Gln
ENST00000545888.6:c.*628G>A	ENSP00000439307.2:n.*628G>A
ENST00000549827.1:n.243G>A
ENST00000551892.1:c.*492G>A	ENSP00000450018.1:n.*492G>A
ENST00000552371.1:c.625G>A
ENST00000628866.2:c.*628G>A	ENSP00000486738.1:n.*628G>A
XM_006719398.2:c.425G>A	XP_006719461.1:p.Arg142Gln
XM_006719398.4:c.425G>A	XP_006719461.1:p.Arg142Gln
XM_011538353.1:c.1127G>A	XP_011536655.1:p.Arg376Gln
XR_001748704.2:n.1150G>A
XR_002957327.1:n.1074G>A