Canonical Allele Identifier: CA411796505

Gene: CYB5R3

Linked Data

• dbSNP Id: rs2146868252
• MyVariant Identifiers: chr22:g.43019846T>C (hg19) ; chr22:g.42623840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623840T>C , CM000684.2:g.42623840T>C	GRCh38
NC_000022.10:g.43019846T>C , CM000684.1:g.43019846T>C	GRCh37
NC_000022.9:g.41349790T>C	NCBI36
NG_012194.1:g.30560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.814A>G	ENSP00000354468.5:p.Lys272Glu
ENST00000402438.6:c.613A>G	ENSP00000385679.1:p.Lys205Glu
ENST00000407332.6:c.700A>G	ENSP00000384457.2:p.Lys234Glu
ENST00000407623.8:c.613A>G	ENSP00000384834.3:p.Lys205Glu
ENST00000617178.5:c.219A>G
ENST00000684963.1:n.2422A>G
ENST00000685184.1:n.274A>G
ENST00000686523.1:c.*631A>G	ENSP00000508940.1:n.*631A>G
ENST00000687183.1:n.958A>G
ENST00000687198.1:c.613A>G	ENSP00000508492.1:p.Lys205Glu
ENST00000688117.1:c.781A>G	ENSP00000509015.1:p.Lys261Glu
ENST00000688244.1:c.382A>G	ENSP00000510355.1:p.Lys128Glu
ENST00000689001.1:n.1304A>G
ENST00000689195.1:c.598A>G	ENSP00000509895.1:p.Lys200Glu
ENST00000689239.1:n.849A>G
ENST00000689795.1:n.943A>G
ENST00000690835.1:c.*61A>G	ENSP00000509038.1:n.*61A>G
ENST00000690993.1:n.1437A>G
ENST00000691295.1:c.*165A>G	ENSP00000508706.1:n.*165A>G
ENST00000691918.1:c.972A>G	ENSP00000509525.1:n.972A>G
ENST00000692152.1:c.613A>G	ENSP00000509317.1:p.Lys205Glu
ENST00000692344.1:n.1169A>G
ENST00000693363.1:c.724A>G	ENSP00000510411.1:p.Lys242Glu
ENST00000693367.1:c.682A>G	ENSP00000508815.1:p.Lys228Glu
ENST00000693639.1:c.675A>G	ENSP00000510223.1:n.675A>G
ENST00000693646.1:c.588A>G	ENSP00000508449.1:n.588A>G
ENST00000352397.10:c.682A>G MANE Select	ENSP00000338461.6:p.Lys228Glu
ENST00000352397.9:c.682A>G	ENSP00000338461.6:p.Lys228Glu
ENST00000361740.8:c.781A>G	ENSP00000354468.4:p.Lys261Glu
ENST00000402438.5:c.613A>G	ENSP00000385679.1:p.Lys205Glu
ENST00000407332.5:c.613A>G	ENSP00000384457.1:p.Lys205Glu
ENST00000407623.7:c.613A>G	ENSP00000384834.3:p.Lys205Glu
ENST00000470741.1:n.2816A>G
NM_000398.6:c.682A>G	NP_000389.1:p.Lys228Glu
NM_001129819.2:c.613A>G	NP_001123291.1:p.Lys205Glu
NM_001171660.1:c.781A>G	NP_001165131.1:p.Lys261Glu
NM_001171661.1:c.613A>G	NP_001165132.1:p.Lys205Glu
NM_007326.4:c.613A>G	NP_015565.1:p.Lys205Glu
NM_000398.7:c.682A>G MANE Select	NP_000389.1:p.Lys228Glu
NM_001171660.2:c.781A>G	NP_001165131.1:p.Lys261Glu