Canonical Allele Identifier: CA10269613

Gene: CYB5R3

Linked Data

• dbSNP Id: rs142077669
• ExAC: 22:43019834 G / T
• gnomAD v2: 22-43019834-G-T
• MyVariant Identifiers: chr22:g.43019834G>T (hg19) ; chr22:g.42623828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623828G>T , CM000684.2:g.42623828G>T	GRCh38
NC_000022.10:g.43019834G>T , CM000684.1:g.43019834G>T	GRCh37
NC_000022.9:g.41349778G>T	NCBI36
NG_012194.1:g.30572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.826C>A	ENSP00000354468.5:p.Arg276Ser
ENST00000402438.6:c.625C>A	ENSP00000385679.1:p.Arg209Ser
ENST00000407332.6:c.712C>A	ENSP00000384457.2:p.Arg238Ser
ENST00000407623.8:c.625C>A	ENSP00000384834.3:p.Arg209Ser
ENST00000617178.5:c.231C>A
ENST00000684963.1:n.2434C>A
ENST00000685184.1:n.286C>A
ENST00000686523.1:c.*643C>A	ENSP00000508940.1:n.*643C>A
ENST00000687183.1:n.970C>A
ENST00000687198.1:c.625C>A	ENSP00000508492.1:p.Arg209Ser
ENST00000688117.1:c.793C>A	ENSP00000509015.1:p.Arg265Ser
ENST00000688244.1:c.394C>A	ENSP00000510355.1:p.Arg132Ser
ENST00000689001.1:n.1316C>A
ENST00000689195.1:c.610C>A	ENSP00000509895.1:p.Arg204Ser
ENST00000689239.1:n.861C>A
ENST00000689795.1:n.955C>A
ENST00000690835.1:c.*73C>A	ENSP00000509038.1:n.*73C>A
ENST00000690993.1:n.1449C>A
ENST00000691295.1:c.*177C>A	ENSP00000508706.1:n.*177C>A
ENST00000691918.1:c.984C>A	ENSP00000509525.1:n.984C>A
ENST00000692152.1:c.625C>A	ENSP00000509317.1:p.Arg209Ser
ENST00000692344.1:n.1181C>A
ENST00000693363.1:c.736C>A	ENSP00000510411.1:p.Arg246Ser
ENST00000693367.1:c.694C>A	ENSP00000508815.1:p.Arg232Ser
ENST00000693639.1:c.687C>A	ENSP00000510223.1:n.687C>A
ENST00000693646.1:c.600C>A	ENSP00000508449.1:n.600C>A
ENST00000352397.10:c.694C>A MANE Select	ENSP00000338461.6:p.Arg232Ser
ENST00000352397.9:c.694C>A	ENSP00000338461.6:p.Arg232Ser
ENST00000361740.8:c.793C>A	ENSP00000354468.4:p.Arg265Ser
ENST00000402438.5:c.625C>A	ENSP00000385679.1:p.Arg209Ser
ENST00000407332.5:c.625C>A	ENSP00000384457.1:p.Arg209Ser
ENST00000407623.7:c.625C>A	ENSP00000384834.3:p.Arg209Ser
ENST00000470741.1:n.2828C>A
NM_000398.6:c.694C>A	NP_000389.1:p.Arg232Ser
NM_001129819.2:c.625C>A	NP_001123291.1:p.Arg209Ser
NM_001171660.1:c.793C>A	NP_001165131.1:p.Arg265Ser
NM_001171661.1:c.625C>A	NP_001165132.1:p.Arg209Ser
NM_007326.4:c.625C>A	NP_015565.1:p.Arg209Ser
NM_000398.7:c.694C>A MANE Select	NP_000389.1:p.Arg232Ser
NM_001171660.2:c.793C>A	NP_001165131.1:p.Arg265Ser