Canonical Allele Identifier: CA2406835183

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623825A= , CM000684.2:g.42623825A=	GRCh38
NC_000022.10:g.43019831A= , CM000684.1:g.43019831A=	GRCh37
NC_000022.9:g.41349775A=	NCBI36
NG_012194.1:g.30575T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.829T=	ENSP00000354468.5:p.Phe277=
ENST00000402438.6:c.628T=	ENSP00000385679.1:p.Phe210=
ENST00000407332.6:c.715T=	ENSP00000384457.2:p.Phe239=
ENST00000407623.8:c.628T=	ENSP00000384834.3:p.Phe210=
ENST00000617178.5:c.234T=
ENST00000684963.1:n.2437T=
ENST00000685184.1:n.289T=
ENST00000686523.1:c.*646T=	ENSP00000508940.1:n.*646T=
ENST00000687183.1:n.973T=
ENST00000687198.1:c.628T=	ENSP00000508492.1:p.Phe210=
ENST00000688117.1:c.796T=	ENSP00000509015.1:p.Phe266=
ENST00000688244.1:c.397T=	ENSP00000510355.1:p.Phe133=
ENST00000689001.1:n.1319T=
ENST00000689195.1:c.613T=	ENSP00000509895.1:p.Phe205=
ENST00000689239.1:n.864T=
ENST00000689795.1:n.958T=
ENST00000690835.1:c.*76T=	ENSP00000509038.1:n.*76T=
ENST00000690993.1:n.1452T=
ENST00000691295.1:c.*180T=	ENSP00000508706.1:n.*180T=
ENST00000691918.1:c.987T=	ENSP00000509525.1:n.987T=
ENST00000692152.1:c.628T=	ENSP00000509317.1:p.Phe210=
ENST00000692344.1:n.1184T=
ENST00000693363.1:c.739T=	ENSP00000510411.1:p.Phe247=
ENST00000693367.1:c.697T=	ENSP00000508815.1:p.Phe233=
ENST00000693639.1:c.690T=	ENSP00000510223.1:n.690T=
ENST00000693646.1:c.603T=	ENSP00000508449.1:n.603T=
ENST00000352397.10:c.697T= MANE Select	ENSP00000338461.6:p.Phe233=
ENST00000352397.9:c.697T=	ENSP00000338461.6:p.Phe233=
ENST00000361740.8:c.796T=	ENSP00000354468.4:p.Phe266=
ENST00000402438.5:c.628T=	ENSP00000385679.1:p.Phe210=
ENST00000407332.5:c.628T=	ENSP00000384457.1:p.Phe210=
ENST00000407623.7:c.628T=	ENSP00000384834.3:p.Phe210=
ENST00000470741.1:n.2831T=
NM_000398.6:c.697T=	NP_000389.1:p.Phe233=
NM_001129819.2:c.628T=	NP_001123291.1:p.Phe210=
NM_001171660.1:c.796T=	NP_001165131.1:p.Phe266=
NM_001171661.1:c.628T=	NP_001165132.1:p.Phe210=
NM_007326.4:c.628T=	NP_015565.1:p.Phe210=
NM_000398.7:c.697T= MANE Select	NP_000389.1:p.Phe233=
NM_001171660.2:c.796T=	NP_001165131.1:p.Phe266=