Canonical Allele Identifier: CA385461819

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905839G>A (hg19) ; chr12:g.57512056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512056G>A , CM000674.2:g.57512056G>A	GRCh38
NC_000012.11:g.57905839G>A , CM000674.1:g.57905839G>A	GRCh37
NC_000012.10:g.56192106G>A	NCBI36
NG_034077.1:g.29104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1588G>A MANE Select	ENSP00000262027.5:p.Ala530Thr
ENST00000262027.9:c.1588G>A	ENSP00000262027.5:p.Ala530Thr
ENST00000447721.6:n.1230G>A
ENST00000537638.6:c.1588G>A	ENSP00000446168.2:p.Ala530Thr
ENST00000545888.6:c.*1089G>A	ENSP00000439307.2:n.*1089G>A
ENST00000546971.5:n.332G>A
ENST00000548630.1:n.149G>A
ENST00000548944.1:c.134-4439G>A	ENSP00000449071.1:n.134-4439G>A
ENST00000549048.1:n.121G>A
ENST00000628866.2:c.*1089G>A	ENSP00000486738.1:n.*1089G>A
NM_004990.3:c.1588G>A	NP_004981.2:p.Ala530Thr
XM_006719398.2:c.886G>A	XP_006719461.1:p.Ala296Thr
XM_011538353.1:c.1588G>A	XP_011536655.1:p.Ala530Thr
XM_006719398.4:c.886G>A	XP_006719461.1:p.Ala296Thr
XR_001748704.2:n.1611G>A
XR_002957327.1:n.1535G>A
NM_004990.4:c.1588G>A MANE Select	NP_004981.2:p.Ala530Thr