Canonical Allele Identifier: CA6650378

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57498520C>A , CM000674.2:g.57498520C>A	GRCh38
NC_000012.11:g.57892303C>A , CM000674.1:g.57892303C>A	GRCh37
NC_000012.10:g.56178570C>A	NCBI36
NG_034077.1:g.15568C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.988C>A MANE Select	NP_004981.2:p.Gln330Lys
ENST00000262027.10:c.988C>A MANE Select	ENSP00000262027.5:p.Gln330Lys
NM_004990.3:c.988C>A	NP_004981.2:p.Gln330Lys
ENST00000262027.9:c.988C>A	ENSP00000262027.5:p.Gln330Lys
ENST00000447721.6:n.630C>A
ENST00000537638.6:c.988C>A	ENSP00000446168.2:p.Gln330Lys
ENST00000545888.6:c.*489C>A	ENSP00000439307.2:n.*489C>A
ENST00000551892.1:c.*353C>A	ENSP00000450018.1:n.*353C>A
ENST00000552371.1:c.486C>A
ENST00000628866.2:c.*489C>A	ENSP00000486738.1:n.*489C>A
XM_006719398.2:c.286C>A	XP_006719461.1:p.Gln96Lys
XM_006719398.4:c.286C>A	XP_006719461.1:p.Gln96Lys
XM_011538353.1:c.988C>A	XP_011536655.1:p.Gln330Lys
XR_001748704.2:n.1011C>A
XR_002957327.1:n.935C>A