Canonical Allele Identifier: CA411800288

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1168517022
• gnomAD v2: 22-43026895-A-G
• gnomAD v4: 22-42630889-A-G
• MyVariant Identifiers: chr22:g.43026895A>G (hg19) ; chr22:g.42630889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630889A>G , CM000684.2:g.42630889A>G	GRCh38
NC_000022.10:g.43026895A>G , CM000684.1:g.43026895A>G	GRCh37
NC_000022.9:g.41356839A>G	NCBI36
NG_012194.1:g.23511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.326T>C	ENSP00000354468.5:p.Val109Ala
ENST00000402438.6:c.257T>C	ENSP00000385679.1:p.Val86Ala
ENST00000407332.6:c.344T>C	ENSP00000384457.2:p.Val115Ala
ENST00000407623.8:c.257T>C	ENSP00000384834.3:p.Val86Ala
ENST00000438270.2:c.257T>C	ENSP00000403439.2:p.Val86Ala
ENST00000466276.2:n.393T>C
ENST00000686129.1:c.257T>C	ENSP00000508623.1:p.Val86Ala
ENST00000686523.1:c.*275T>C	ENSP00000508940.1:n.*275T>C
ENST00000687183.1:n.387T>C
ENST00000687198.1:c.257T>C	ENSP00000508492.1:p.Val86Ala
ENST00000688117.1:c.425T>C	ENSP00000509015.1:p.Val142Ala
ENST00000688244.1:c.326T>C	ENSP00000510355.1:p.Val109Ala
ENST00000689001.1:n.733T>C
ENST00000689195.1:c.326T>C	ENSP00000509895.1:p.Val109Ala
ENST00000689239.1:n.493T>C
ENST00000689795.1:n.488T>C
ENST00000690835.1:c.326T>C	ENSP00000509038.1:p.Val109Ala
ENST00000690993.1:n.403T>C
ENST00000691295.1:c.326T>C	ENSP00000508706.1:p.Val109Ala
ENST00000691918.1:c.305T>C	ENSP00000509525.1:p.Val102Ala
ENST00000692152.1:c.257T>C	ENSP00000509317.1:p.Val86Ala
ENST00000692344.1:n.350T>C
ENST00000693157.1:c.246T>C	ENSP00000510610.1:n.246T>C
ENST00000693363.1:c.326T>C	ENSP00000510411.1:p.Val109Ala
ENST00000693367.1:c.326T>C	ENSP00000508815.1:p.Val109Ala
ENST00000693639.1:c.319T>C	ENSP00000510223.1:p.Ser107Pro
ENST00000693646.1:c.232T>C	ENSP00000508449.1:p.Ser78Pro
ENST00000352397.10:c.326T>C MANE Select	ENSP00000338461.6:p.Val109Ala
ENST00000352397.9:c.326T>C	ENSP00000338461.6:p.Val109Ala
ENST00000361740.8:c.425T>C	ENSP00000354468.4:p.Val142Ala
ENST00000402438.5:c.257T>C	ENSP00000385679.1:p.Val86Ala
ENST00000407332.5:c.257T>C	ENSP00000384457.1:p.Val86Ala
ENST00000407623.7:c.257T>C	ENSP00000384834.3:p.Val86Ala
ENST00000438270.1:c.257T>C	ENSP00000403439.1:p.Val86Ala
ENST00000470741.1:n.2460T>C
NM_000398.6:c.326T>C	NP_000389.1:p.Val109Ala
NM_001129819.2:c.257T>C	NP_001123291.1:p.Val86Ala
NM_001171660.1:c.425T>C	NP_001165131.1:p.Val142Ala
NM_001171661.1:c.257T>C	NP_001165132.1:p.Val86Ala
NM_007326.4:c.257T>C	NP_015565.1:p.Val86Ala
NM_000398.7:c.326T>C MANE Select	NP_000389.1:p.Val109Ala
NM_001171660.2:c.425T>C	NP_001165131.1:p.Val142Ala