Canonical Allele Identifier: CA480395764

Gene: MARS1

Linked Data

• dbSNP Id: rs1234248308
• gnomAD v2: 12-57905829-G-A
• gnomAD v4: 12-57512046-G-A
• MyVariant Identifiers: chr12:g.57905829G>A (hg19) ; chr12:g.57512046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512046G>A , CM000674.2:g.57512046G>A	GRCh38
NC_000012.11:g.57905829G>A , CM000674.1:g.57905829G>A	GRCh37
NC_000012.10:g.56192096G>A	NCBI36
NG_034077.1:g.29094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1578G>A MANE Select	ENSP00000262027.5:p.Leu526=
ENST00000262027.9:c.1578G>A	ENSP00000262027.5:p.Leu526=
ENST00000447721.6:n.1220G>A
ENST00000537638.6:c.1578G>A	ENSP00000446168.2:p.Leu526=
ENST00000545888.6:c.*1079G>A	ENSP00000439307.2:n.*1079G>A
ENST00000546971.5:n.322G>A
ENST00000548630.1:n.139G>A
ENST00000548944.1:c.134-4449G>A	ENSP00000449071.1:n.134-4449G>A
ENST00000549048.1:n.111G>A
ENST00000628866.2:c.*1079G>A	ENSP00000486738.1:n.*1079G>A
NM_004990.3:c.1578G>A	NP_004981.2:p.Leu526=
XM_006719398.2:c.876G>A	XP_006719461.1:p.Leu292=
XM_011538353.1:c.1578G>A	XP_011536655.1:p.Leu526=
XM_006719398.4:c.876G>A	XP_006719461.1:p.Leu292=
XR_001748704.2:n.1601G>A
XR_002957327.1:n.1525G>A
NM_004990.4:c.1578G>A MANE Select	NP_004981.2:p.Leu526=