Canonical Allele Identifier: CA480395680

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905495G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511712G>A , CM000674.2:g.57511712G>A	GRCh38
NC_000012.11:g.57905495G>A , CM000674.1:g.57905495G>A	GRCh37
NC_000012.10:g.56191762G>A	NCBI36
NG_034077.1:g.28760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1383G>A MANE Select	ENSP00000262027.5:p.Leu461=
ENST00000262027.9:c.1383G>A	ENSP00000262027.5:p.Leu461=
ENST00000447721.6:n.1025G>A
ENST00000537638.6:c.1383G>A	ENSP00000446168.2:p.Leu461=
ENST00000545888.6:c.*884G>A	ENSP00000439307.2:n.*884G>A
ENST00000546971.5:n.127G>A
ENST00000548944.1:c.134-4783G>A	ENSP00000449071.1:n.134-4783G>A
ENST00000549603.1:n.329G>A
ENST00000628866.2:c.*884G>A	ENSP00000486738.1:n.*884G>A
NM_004990.3:c.1383G>A	NP_004981.2:p.Leu461=
XM_006719398.2:c.681G>A	XP_006719461.1:p.Leu227=
XM_011538353.1:c.1383G>A	XP_011536655.1:p.Leu461=
XM_006719398.4:c.681G>A	XP_006719461.1:p.Leu227=
XR_001748704.2:n.1406G>A
XR_002957327.1:n.1330G>A
NM_004990.4:c.1383G>A MANE Select	NP_004981.2:p.Leu461=