Canonical Allele Identifier: CA411796620

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019865C>A (hg19) ; chr22:g.42623859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623859C>A , CM000684.2:g.42623859C>A	GRCh38
NC_000022.10:g.43019865C>A , CM000684.1:g.43019865C>A	GRCh37
NC_000022.9:g.41349809C>A	NCBI36
NG_012194.1:g.30541G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.795G>T	ENSP00000354468.5:p.Glu265Asp
ENST00000402438.6:c.594G>T	ENSP00000385679.1:p.Glu198Asp
ENST00000407332.6:c.681G>T	ENSP00000384457.2:p.Glu227Asp
ENST00000407623.8:c.594G>T	ENSP00000384834.3:p.Glu198Asp
ENST00000617178.5:c.200G>T
ENST00000684963.1:n.2403G>T
ENST00000685184.1:n.255G>T
ENST00000686523.1:c.*612G>T	ENSP00000508940.1:n.*612G>T
ENST00000687183.1:n.939G>T
ENST00000687198.1:c.594G>T	ENSP00000508492.1:p.Glu198Asp
ENST00000688117.1:c.762G>T	ENSP00000509015.1:p.Glu254Asp
ENST00000688244.1:c.363G>T	ENSP00000510355.1:p.Glu121Asp
ENST00000689001.1:n.1285G>T
ENST00000689195.1:c.579G>T	ENSP00000509895.1:p.Glu193Asp
ENST00000689239.1:n.830G>T
ENST00000689795.1:n.924G>T
ENST00000690835.1:c.*42G>T	ENSP00000509038.1:n.*42G>T
ENST00000690993.1:n.1418G>T
ENST00000691295.1:c.*146G>T	ENSP00000508706.1:n.*146G>T
ENST00000691918.1:c.953G>T	ENSP00000509525.1:n.953G>T
ENST00000692152.1:c.594G>T	ENSP00000509317.1:p.Glu198Asp
ENST00000692344.1:n.1150G>T
ENST00000693363.1:c.705G>T	ENSP00000510411.1:p.Glu235Asp
ENST00000693367.1:c.663G>T	ENSP00000508815.1:p.Glu221Asp
ENST00000693639.1:c.656G>T	ENSP00000510223.1:n.656G>T
ENST00000693646.1:c.569G>T	ENSP00000508449.1:n.569G>T
ENST00000352397.10:c.663G>T MANE Select	ENSP00000338461.6:p.Glu221Asp
ENST00000352397.9:c.663G>T	ENSP00000338461.6:p.Glu221Asp
ENST00000361740.8:c.762G>T	ENSP00000354468.4:p.Glu254Asp
ENST00000402438.5:c.594G>T	ENSP00000385679.1:p.Glu198Asp
ENST00000407332.5:c.594G>T	ENSP00000384457.1:p.Glu198Asp
ENST00000407623.7:c.594G>T	ENSP00000384834.3:p.Glu198Asp
ENST00000470741.1:n.2797G>T
NM_000398.6:c.663G>T	NP_000389.1:p.Glu221Asp
NM_001129819.2:c.594G>T	NP_001123291.1:p.Glu198Asp
NM_001171660.1:c.762G>T	NP_001165131.1:p.Glu254Asp
NM_001171661.1:c.594G>T	NP_001165132.1:p.Glu198Asp
NM_007326.4:c.594G>T	NP_015565.1:p.Glu198Asp
NM_000398.7:c.663G>T MANE Select	NP_000389.1:p.Glu221Asp
NM_001171660.2:c.762G>T	NP_001165131.1:p.Glu254Asp