Canonical Allele Identifier: CA6650376

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57498518C>A , CM000674.2:g.57498518C>A	GRCh38
NC_000012.11:g.57892301C>A , CM000674.1:g.57892301C>A	GRCh37
NC_000012.10:g.56178568C>A	NCBI36
NG_034077.1:g.15566C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.986C>A MANE Select	NP_004981.2:p.Pro329His
ENST00000262027.10:c.986C>A MANE Select	ENSP00000262027.5:p.Pro329His
NM_004990.3:c.986C>A	NP_004981.2:p.Pro329His
ENST00000262027.9:c.986C>A	ENSP00000262027.5:p.Pro329His
ENST00000447721.6:n.628C>A
ENST00000537638.6:c.986C>A	ENSP00000446168.2:p.Pro329His
ENST00000545888.6:c.*487C>A	ENSP00000439307.2:n.*487C>A
ENST00000551892.1:c.*351C>A	ENSP00000450018.1:n.*351C>A
ENST00000552371.1:c.484C>A
ENST00000628866.2:c.*487C>A	ENSP00000486738.1:n.*487C>A
XM_006719398.2:c.284C>A	XP_006719461.1:p.Pro95His
XM_006719398.4:c.284C>A	XP_006719461.1:p.Pro95His
XM_011538353.1:c.986C>A	XP_011536655.1:p.Pro329His
XR_001748704.2:n.1009C>A
XR_002957327.1:n.933C>A