Canonical Allele Identifier: CA411796271

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019797T>G (hg19) ; chr22:g.42623791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623791T>G , CM000684.2:g.42623791T>G	GRCh38
NC_000022.10:g.43019797T>G , CM000684.1:g.43019797T>G	GRCh37
NC_000022.9:g.41349741T>G	NCBI36
NG_012194.1:g.30609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.863A>C	ENSP00000354468.5:p.Glu288Ala
ENST00000402438.6:c.662A>C	ENSP00000385679.1:p.Glu221Ala
ENST00000407332.6:c.749A>C	ENSP00000384457.2:p.Glu250Ala
ENST00000407623.8:c.662A>C	ENSP00000384834.3:p.Glu221Ala
ENST00000617178.5:c.268A>C
ENST00000684963.1:n.2471A>C
ENST00000685184.1:n.323A>C
ENST00000686523.1:c.*680A>C	ENSP00000508940.1:n.*680A>C
ENST00000687183.1:n.1007A>C
ENST00000687198.1:c.662A>C	ENSP00000508492.1:p.Glu221Ala
ENST00000688117.1:c.830A>C	ENSP00000509015.1:p.Glu277Ala
ENST00000688244.1:c.431A>C	ENSP00000510355.1:p.Glu144Ala
ENST00000689001.1:n.1353A>C
ENST00000689195.1:c.647A>C	ENSP00000509895.1:p.Glu216Ala
ENST00000689239.1:n.898A>C
ENST00000689795.1:n.992A>C
ENST00000690835.1:c.*110A>C	ENSP00000509038.1:n.*110A>C
ENST00000690993.1:n.1486A>C
ENST00000691295.1:c.*214A>C	ENSP00000508706.1:n.*214A>C
ENST00000691918.1:c.1021A>C	ENSP00000509525.1:n.1021A>C
ENST00000692152.1:c.662A>C	ENSP00000509317.1:p.Glu221Ala
ENST00000692344.1:n.1218A>C
ENST00000693363.1:c.773A>C	ENSP00000510411.1:p.Glu258Ala
ENST00000693367.1:c.731A>C	ENSP00000508815.1:p.Glu244Ala
ENST00000693639.1:c.724A>C	ENSP00000510223.1:n.724A>C
ENST00000693646.1:c.637A>C	ENSP00000508449.1:n.637A>C
ENST00000352397.10:c.731A>C MANE Select	ENSP00000338461.6:p.Glu244Ala
ENST00000352397.9:c.731A>C	ENSP00000338461.6:p.Glu244Ala
ENST00000361740.8:c.830A>C	ENSP00000354468.4:p.Glu277Ala
ENST00000402438.5:c.662A>C	ENSP00000385679.1:p.Glu221Ala
ENST00000407332.5:c.662A>C	ENSP00000384457.1:p.Glu221Ala
ENST00000407623.7:c.662A>C	ENSP00000384834.3:p.Glu221Ala
ENST00000470741.1:n.2865A>C
NM_000398.6:c.731A>C	NP_000389.1:p.Glu244Ala
NM_001129819.2:c.662A>C	NP_001123291.1:p.Glu221Ala
NM_001171660.1:c.830A>C	NP_001165131.1:p.Glu277Ala
NM_001171661.1:c.662A>C	NP_001165132.1:p.Glu221Ala
NM_007326.4:c.662A>C	NP_015565.1:p.Glu221Ala
NM_000398.7:c.731A>C MANE Select	NP_000389.1:p.Glu244Ala
NM_001171660.2:c.830A>C	NP_001165131.1:p.Glu277Ala