Canonical Allele Identifier: CA6650623

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512790G>A , CM000674.2:g.57512790G>A	GRCh38
NC_000012.11:g.57906573G>A , CM000674.1:g.57906573G>A	GRCh37
NC_000012.10:g.56192840G>A	NCBI36
NG_034077.1:g.29838G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.1793G>A MANE Select	NP_004981.2:p.Arg598His
ENST00000262027.10:c.1793G>A MANE Select	ENSP00000262027.5:p.Arg598His
NM_004990.3:c.1793G>A	NP_004981.2:p.Arg598His
ENST00000262027.9:c.1793G>A	ENSP00000262027.5:p.Arg598His
ENST00000537638.6:c.*85G>A	ENSP00000446168.2:n.*85G>A
ENST00000545888.6:c.*1294G>A	ENSP00000439307.2:n.*1294G>A
ENST00000546971.5:n.537G>A
ENST00000548202.5:n.300G>A
ENST00000548944.1:c.134-3705G>A	ENSP00000449071.1:n.134-3705G>A
ENST00000549048.1:n.458G>A
ENST00000628866.2:c.*1294G>A	ENSP00000486738.1:n.*1294G>A
XM_006719398.2:c.1091G>A	XP_006719461.1:p.Arg364His
XM_006719398.4:c.1091G>A	XP_006719461.1:p.Arg364His
XM_011538353.1:c.*85G>A	XP_011536655.1:n.*85G>A
XR_001748704.2:n.1749G>A
XR_002957327.1:n.1740G>A