Canonical Allele Identifier: CA411796589

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019859C>G (hg19) ; chr22:g.42623853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623853C>G , CM000684.2:g.42623853C>G	GRCh38
NC_000022.10:g.43019859C>G , CM000684.1:g.43019859C>G	GRCh37
NC_000022.9:g.41349803C>G	NCBI36
NG_012194.1:g.30547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.801G>C	ENSP00000354468.5:p.Glu267Asp
ENST00000402438.6:c.600G>C	ENSP00000385679.1:p.Glu200Asp
ENST00000407332.6:c.687G>C	ENSP00000384457.2:p.Glu229Asp
ENST00000407623.8:c.600G>C	ENSP00000384834.3:p.Glu200Asp
ENST00000617178.5:c.206G>C
ENST00000684963.1:n.2409G>C
ENST00000685184.1:n.261G>C
ENST00000686523.1:c.*618G>C	ENSP00000508940.1:n.*618G>C
ENST00000687183.1:n.945G>C
ENST00000687198.1:c.600G>C	ENSP00000508492.1:p.Glu200Asp
ENST00000688117.1:c.768G>C	ENSP00000509015.1:p.Glu256Asp
ENST00000688244.1:c.369G>C	ENSP00000510355.1:p.Glu123Asp
ENST00000689001.1:n.1291G>C
ENST00000689195.1:c.585G>C	ENSP00000509895.1:p.Glu195Asp
ENST00000689239.1:n.836G>C
ENST00000689795.1:n.930G>C
ENST00000690835.1:c.*48G>C	ENSP00000509038.1:n.*48G>C
ENST00000690993.1:n.1424G>C
ENST00000691295.1:c.*152G>C	ENSP00000508706.1:n.*152G>C
ENST00000691918.1:c.959G>C	ENSP00000509525.1:n.959G>C
ENST00000692152.1:c.600G>C	ENSP00000509317.1:p.Glu200Asp
ENST00000692344.1:n.1156G>C
ENST00000693363.1:c.711G>C	ENSP00000510411.1:p.Glu237Asp
ENST00000693367.1:c.669G>C	ENSP00000508815.1:p.Glu223Asp
ENST00000693639.1:c.662G>C	ENSP00000510223.1:n.662G>C
ENST00000693646.1:c.575G>C	ENSP00000508449.1:n.575G>C
ENST00000352397.10:c.669G>C MANE Select	ENSP00000338461.6:p.Glu223Asp
ENST00000352397.9:c.669G>C	ENSP00000338461.6:p.Glu223Asp
ENST00000361740.8:c.768G>C	ENSP00000354468.4:p.Glu256Asp
ENST00000402438.5:c.600G>C	ENSP00000385679.1:p.Glu200Asp
ENST00000407332.5:c.600G>C	ENSP00000384457.1:p.Glu200Asp
ENST00000407623.7:c.600G>C	ENSP00000384834.3:p.Glu200Asp
ENST00000470741.1:n.2803G>C
NM_000398.6:c.669G>C	NP_000389.1:p.Glu223Asp
NM_001129819.2:c.600G>C	NP_001123291.1:p.Glu200Asp
NM_001171660.1:c.768G>C	NP_001165131.1:p.Glu256Asp
NM_001171661.1:c.600G>C	NP_001165132.1:p.Glu200Asp
NM_007326.4:c.600G>C	NP_015565.1:p.Glu200Asp
NM_000398.7:c.669G>C MANE Select	NP_000389.1:p.Glu223Asp
NM_001171660.2:c.768G>C	NP_001165131.1:p.Glu256Asp