Canonical Allele Identifier: CA411796632

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019866T>G (hg19) ; chr22:g.42623860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623860T>G , CM000684.2:g.42623860T>G	GRCh38
NC_000022.10:g.43019866T>G , CM000684.1:g.43019866T>G	GRCh37
NC_000022.9:g.41349810T>G	NCBI36
NG_012194.1:g.30540A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.794A>C	ENSP00000354468.5:p.Glu265Ala
ENST00000402438.6:c.593A>C	ENSP00000385679.1:p.Glu198Ala
ENST00000407332.6:c.680A>C	ENSP00000384457.2:p.Glu227Ala
ENST00000407623.8:c.593A>C	ENSP00000384834.3:p.Glu198Ala
ENST00000617178.5:c.199A>C
ENST00000684963.1:n.2402A>C
ENST00000685184.1:n.254A>C
ENST00000686523.1:c.*611A>C	ENSP00000508940.1:n.*611A>C
ENST00000687183.1:n.938A>C
ENST00000687198.1:c.593A>C	ENSP00000508492.1:p.Glu198Ala
ENST00000688117.1:c.761A>C	ENSP00000509015.1:p.Glu254Ala
ENST00000688244.1:c.362A>C	ENSP00000510355.1:p.Glu121Ala
ENST00000689001.1:n.1284A>C
ENST00000689195.1:c.578A>C	ENSP00000509895.1:p.Glu193Ala
ENST00000689239.1:n.829A>C
ENST00000689795.1:n.923A>C
ENST00000690835.1:c.*41A>C	ENSP00000509038.1:n.*41A>C
ENST00000690993.1:n.1417A>C
ENST00000691295.1:c.*145A>C	ENSP00000508706.1:n.*145A>C
ENST00000691918.1:c.952A>C	ENSP00000509525.1:n.952A>C
ENST00000692152.1:c.593A>C	ENSP00000509317.1:p.Glu198Ala
ENST00000692344.1:n.1149A>C
ENST00000693363.1:c.704A>C	ENSP00000510411.1:p.Glu235Ala
ENST00000693367.1:c.662A>C	ENSP00000508815.1:p.Glu221Ala
ENST00000693639.1:c.655A>C	ENSP00000510223.1:n.655A>C
ENST00000693646.1:c.568A>C	ENSP00000508449.1:n.568A>C
ENST00000352397.10:c.662A>C MANE Select	ENSP00000338461.6:p.Glu221Ala
ENST00000352397.9:c.662A>C	ENSP00000338461.6:p.Glu221Ala
ENST00000361740.8:c.761A>C	ENSP00000354468.4:p.Glu254Ala
ENST00000402438.5:c.593A>C	ENSP00000385679.1:p.Glu198Ala
ENST00000407332.5:c.593A>C	ENSP00000384457.1:p.Glu198Ala
ENST00000407623.7:c.593A>C	ENSP00000384834.3:p.Glu198Ala
ENST00000470741.1:n.2796A>C
NM_000398.6:c.662A>C	NP_000389.1:p.Glu221Ala
NM_001129819.2:c.593A>C	NP_001123291.1:p.Glu198Ala
NM_001171660.1:c.761A>C	NP_001165131.1:p.Glu254Ala
NM_001171661.1:c.593A>C	NP_001165132.1:p.Glu198Ala
NM_007326.4:c.593A>C	NP_015565.1:p.Glu198Ala
NM_000398.7:c.662A>C MANE Select	NP_000389.1:p.Glu221Ala
NM_001171660.2:c.761A>C	NP_001165131.1:p.Glu254Ala