Canonical Allele Identifier: CA411796270

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019796T>G (hg19) ; chr22:g.42623790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623790T>G , CM000684.2:g.42623790T>G	GRCh38
NC_000022.10:g.43019796T>G , CM000684.1:g.43019796T>G	GRCh37
NC_000022.9:g.41349740T>G	NCBI36
NG_012194.1:g.30610A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.864A>C	ENSP00000354468.5:p.Glu288Asp
ENST00000402438.6:c.663A>C	ENSP00000385679.1:p.Glu221Asp
ENST00000407332.6:c.750A>C	ENSP00000384457.2:p.Glu250Asp
ENST00000407623.8:c.663A>C	ENSP00000384834.3:p.Glu221Asp
ENST00000617178.5:c.269A>C
ENST00000684963.1:n.2472A>C
ENST00000685184.1:n.324A>C
ENST00000686523.1:c.*681A>C	ENSP00000508940.1:n.*681A>C
ENST00000687183.1:n.1008A>C
ENST00000687198.1:c.663A>C	ENSP00000508492.1:p.Glu221Asp
ENST00000688117.1:c.831A>C	ENSP00000509015.1:p.Glu277Asp
ENST00000688244.1:c.432A>C	ENSP00000510355.1:p.Glu144Asp
ENST00000689001.1:n.1354A>C
ENST00000689195.1:c.648A>C	ENSP00000509895.1:p.Glu216Asp
ENST00000689239.1:n.899A>C
ENST00000689795.1:n.993A>C
ENST00000690835.1:c.*111A>C	ENSP00000509038.1:n.*111A>C
ENST00000690993.1:n.1487A>C
ENST00000691295.1:c.*215A>C	ENSP00000508706.1:n.*215A>C
ENST00000691918.1:c.1022A>C	ENSP00000509525.1:n.1022A>C
ENST00000692152.1:c.663A>C	ENSP00000509317.1:p.Glu221Asp
ENST00000692344.1:n.1219A>C
ENST00000693363.1:c.774A>C	ENSP00000510411.1:p.Glu258Asp
ENST00000693367.1:c.732A>C	ENSP00000508815.1:p.Glu244Asp
ENST00000693639.1:c.725A>C	ENSP00000510223.1:n.725A>C
ENST00000693646.1:c.638A>C	ENSP00000508449.1:n.638A>C
ENST00000352397.10:c.732A>C MANE Select	ENSP00000338461.6:p.Glu244Asp
ENST00000352397.9:c.732A>C	ENSP00000338461.6:p.Glu244Asp
ENST00000361740.8:c.831A>C	ENSP00000354468.4:p.Glu277Asp
ENST00000402438.5:c.663A>C	ENSP00000385679.1:p.Glu221Asp
ENST00000407332.5:c.663A>C	ENSP00000384457.1:p.Glu221Asp
ENST00000407623.7:c.663A>C	ENSP00000384834.3:p.Glu221Asp
ENST00000470741.1:n.2866A>C
NM_000398.6:c.732A>C	NP_000389.1:p.Glu244Asp
NM_001129819.2:c.663A>C	NP_001123291.1:p.Glu221Asp
NM_001171660.1:c.831A>C	NP_001165131.1:p.Glu277Asp
NM_001171661.1:c.663A>C	NP_001165132.1:p.Glu221Asp
NM_007326.4:c.663A>C	NP_015565.1:p.Glu221Asp
NM_000398.7:c.732A>C MANE Select	NP_000389.1:p.Glu244Asp
NM_001171660.2:c.831A>C	NP_001165131.1:p.Glu277Asp