Canonical Allele Identifier: CA411796730

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019885C>G (hg19) ; chr22:g.42623879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623879C>G , CM000684.2:g.42623879C>G	GRCh38
NC_000022.10:g.43019885C>G , CM000684.1:g.43019885C>G	GRCh37
NC_000022.9:g.41349829C>G	NCBI36
NG_012194.1:g.30521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.775G>C	ENSP00000354468.5:p.Asp259His
ENST00000402438.6:c.574G>C	ENSP00000385679.1:p.Asp192His
ENST00000407332.6:c.661G>C	ENSP00000384457.2:p.Asp221His
ENST00000407623.8:c.574G>C	ENSP00000384834.3:p.Asp192His
ENST00000617178.5:c.180G>C
ENST00000684963.1:n.2383G>C
ENST00000685184.1:n.235G>C
ENST00000686523.1:c.*592G>C	ENSP00000508940.1:n.*592G>C
ENST00000687183.1:n.919G>C
ENST00000687198.1:c.574G>C	ENSP00000508492.1:p.Asp192His
ENST00000688117.1:c.742G>C	ENSP00000509015.1:p.Asp248His
ENST00000688244.1:c.343G>C	ENSP00000510355.1:p.Asp115His
ENST00000689001.1:n.1265G>C
ENST00000689195.1:c.559G>C	ENSP00000509895.1:p.Asp187His
ENST00000689239.1:n.810G>C
ENST00000689795.1:n.904G>C
ENST00000690835.1:c.*22G>C	ENSP00000509038.1:n.*22G>C
ENST00000690993.1:n.1398G>C
ENST00000691295.1:c.*126G>C	ENSP00000508706.1:n.*126G>C
ENST00000691918.1:c.933G>C	ENSP00000509525.1:n.933G>C
ENST00000692152.1:c.574G>C	ENSP00000509317.1:p.Asp192His
ENST00000692344.1:n.1130G>C
ENST00000693363.1:c.685G>C	ENSP00000510411.1:p.Asp229His
ENST00000693367.1:c.643G>C	ENSP00000508815.1:p.Asp215His
ENST00000693639.1:c.636G>C	ENSP00000510223.1:n.636G>C
ENST00000693646.1:c.549G>C	ENSP00000508449.1:n.549G>C
ENST00000352397.10:c.643G>C MANE Select	ENSP00000338461.6:p.Asp215His
ENST00000352397.9:c.643G>C	ENSP00000338461.6:p.Asp215His
ENST00000361740.8:c.742G>C	ENSP00000354468.4:p.Asp248His
ENST00000402438.5:c.574G>C	ENSP00000385679.1:p.Asp192His
ENST00000407332.5:c.574G>C	ENSP00000384457.1:p.Asp192His
ENST00000407623.7:c.574G>C	ENSP00000384834.3:p.Asp192His
ENST00000470741.1:n.2777G>C
NM_000398.6:c.643G>C	NP_000389.1:p.Asp215His
NM_001129819.2:c.574G>C	NP_001123291.1:p.Asp192His
NM_001171660.1:c.742G>C	NP_001165131.1:p.Asp248His
NM_001171661.1:c.574G>C	NP_001165132.1:p.Asp192His
NM_007326.4:c.574G>C	NP_015565.1:p.Asp192His
NM_000398.7:c.643G>C MANE Select	NP_000389.1:p.Asp215His
NM_001171660.2:c.742G>C	NP_001165131.1:p.Asp248His