Canonical Allele Identifier: CA6650878

Gene: MARS1

Linked Data

• ClinVar Variation Id: 380846
• ClinVar RCV Id: RCV001174282 ; RCV001810915
• dbSNP Id: rs73344102
• ExAC: 12:57910096 G / A
• gnomAD v2: 12-57910096-G-A
• gnomAD v3: 12-57516313-G-A
• gnomAD v4: 12-57516313-G-A
• MyVariant Identifiers: chr12:g.57910096G>A (hg19) ; chr12:g.57516313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57516313G>A , CM000674.2:g.57516313G>A	GRCh38
NC_000012.11:g.57910096G>A , CM000674.1:g.57910096G>A	GRCh37
NC_000012.10:g.56196363G>A	NCBI36
NG_027674.1:g.9205C>T
NG_034077.1:g.33361G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.2532G>A MANE Select	ENSP00000262027.5:p.Ala844=
ENST00000262027.9:c.2532G>A	ENSP00000262027.5:p.Ala844=
ENST00000537638.6:c.*824G>A	ENSP00000446168.2:n.*824G>A
ENST00000545888.6:c.*2286G>A	ENSP00000439307.2:n.*2286G>A
ENST00000547665.5:c.328G>A
ENST00000548944.1:c.134-182G>A	ENSP00000449071.1:n.134-182G>A
ENST00000551172.1:c.462G>A
ENST00000552499.5:c.317G>A	ENSP00000447335.1:n.317G>A
ENST00000552914.5:c.489G>A	ENSP00000449787.1:p.Ala163=
ENST00000628866.2:c.*2033G>A	ENSP00000486738.1:n.*2033G>A
NM_004990.3:c.2532G>A	NP_004981.2:p.Ala844=
XM_006719398.2:c.1830G>A	XP_006719461.1:p.Ala610=
XM_006719398.4:c.1830G>A	XP_006719461.1:p.Ala610=
XR_001748704.2:n.2488G>A
XR_002957327.1:n.2732G>A
NM_004990.4:c.2532G>A MANE Select	NP_004981.2:p.Ala844=