Canonical Allele Identifier: CA182671

Gene: MSRB3

Linked Data

• ClinVar Variation Id: 178616
• ClinVar RCV Id: RCV000155370 ; RCV001636696
• dbSNP Id: rs35393316
• ExAC: 12:65857030 G / A
• gnomAD v2: 12-65857030-G-A
• gnomAD v3: 12-65463250-G-A
• gnomAD v4: 12-65463250-G-A
• MyVariant Identifiers: chr12:g.65857030G>A (hg19) ; chr12:g.65463250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65463250G>A , CM000674.2:g.65463250G>A	GRCh38
NC_000012.11:g.65857030G>A , CM000674.1:g.65857030G>A	GRCh37
NC_000012.10:g.64143297G>A	NCBI36
NG_023441.1:g.189608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308259.10:c.486G>A MANE Select	ENSP00000312274.6:p.Ala162=
ENST00000355192.8:c.507G>A	ENSP00000347324.3:p.Ala169=
ENST00000642404.1:c.486G>A	ENSP00000496008.1:p.Ala162=
ENST00000642411.1:c.486G>A	ENSP00000494265.1:p.Ala162=
ENST00000646299.1:c.486G>A	ENSP00000494941.1:p.Ala162=
ENST00000647481.1:c.195+9425G>A	ENSP00000496162.1:n.195+9425G>A
ENST00000308259.9:c.486G>A	ENSP00000312274.5:p.Ala162=
ENST00000355192.7:c.507G>A	ENSP00000347324.3:p.Ala169=
ENST00000446731.2:c.265+9425G>A
ENST00000535143.1:n.325G>A
ENST00000535239.5:c.486G>A	ENSP00000445843.1:p.Ala162=
ENST00000535664.5:c.486G>A	ENSP00000441650.1:p.Ala162=
ENST00000541189.5:c.436+9425G>A
ENST00000614640.4:c.486G>A	ENSP00000481483.1:p.Ala162=
NM_001031679.2:c.486G>A	NP_001026849.1:p.Ala162=
NM_001193460.1:c.486G>A	NP_001180389.1:p.Ala162=
NM_001193461.1:c.486G>A	NP_001180390.1:p.Ala162=
NM_198080.3:c.507G>A	NP_932346.1:p.Ala169=
XM_024448918.1:c.486G>A	XP_024304686.1:p.Ala162=
XM_024448919.1:c.486G>A	XP_024304687.1:p.Ala162=
XM_024448920.1:c.486G>A	XP_024304688.1:p.Ala162=
XM_024448921.1:c.486G>A	XP_024304689.1:p.Ala162=
NM_001031679.3:c.486G>A MANE Select	NP_001026849.1:p.Ala162=
NM_001193460.2:c.486G>A	NP_001180389.1:p.Ala162=
NM_198080.4:c.507G>A	NP_932346.1:p.Ala169=
NM_001193461.2:c.486G>A	NP_001180390.1:p.Ala162=