Canonical Allele Identifier: CA411796433

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019833C>G (hg19) ; chr22:g.42623827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623827C>G , CM000684.2:g.42623827C>G	GRCh38
NC_000022.10:g.43019833C>G , CM000684.1:g.43019833C>G	GRCh37
NC_000022.9:g.41349777C>G	NCBI36
NG_012194.1:g.30573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.827G>C	ENSP00000354468.5:p.Arg276Pro
ENST00000402438.6:c.626G>C	ENSP00000385679.1:p.Arg209Pro
ENST00000407332.6:c.713G>C	ENSP00000384457.2:p.Arg238Pro
ENST00000407623.8:c.626G>C	ENSP00000384834.3:p.Arg209Pro
ENST00000617178.5:c.232G>C
ENST00000684963.1:n.2435G>C
ENST00000685184.1:n.287G>C
ENST00000686523.1:c.*644G>C	ENSP00000508940.1:n.*644G>C
ENST00000687183.1:n.971G>C
ENST00000687198.1:c.626G>C	ENSP00000508492.1:p.Arg209Pro
ENST00000688117.1:c.794G>C	ENSP00000509015.1:p.Arg265Pro
ENST00000688244.1:c.395G>C	ENSP00000510355.1:p.Arg132Pro
ENST00000689001.1:n.1317G>C
ENST00000689195.1:c.611G>C	ENSP00000509895.1:p.Arg204Pro
ENST00000689239.1:n.862G>C
ENST00000689795.1:n.956G>C
ENST00000690835.1:c.*74G>C	ENSP00000509038.1:n.*74G>C
ENST00000690993.1:n.1450G>C
ENST00000691295.1:c.*178G>C	ENSP00000508706.1:n.*178G>C
ENST00000691918.1:c.985G>C	ENSP00000509525.1:n.985G>C
ENST00000692152.1:c.626G>C	ENSP00000509317.1:p.Arg209Pro
ENST00000692344.1:n.1182G>C
ENST00000693363.1:c.737G>C	ENSP00000510411.1:p.Arg246Pro
ENST00000693367.1:c.695G>C	ENSP00000508815.1:p.Arg232Pro
ENST00000693639.1:c.688G>C	ENSP00000510223.1:n.688G>C
ENST00000693646.1:c.601G>C	ENSP00000508449.1:n.601G>C
ENST00000352397.10:c.695G>C MANE Select	ENSP00000338461.6:p.Arg232Pro
ENST00000352397.9:c.695G>C	ENSP00000338461.6:p.Arg232Pro
ENST00000361740.8:c.794G>C	ENSP00000354468.4:p.Arg265Pro
ENST00000402438.5:c.626G>C	ENSP00000385679.1:p.Arg209Pro
ENST00000407332.5:c.626G>C	ENSP00000384457.1:p.Arg209Pro
ENST00000407623.7:c.626G>C	ENSP00000384834.3:p.Arg209Pro
ENST00000470741.1:n.2829G>C
NM_000398.6:c.695G>C	NP_000389.1:p.Arg232Pro
NM_001129819.2:c.626G>C	NP_001123291.1:p.Arg209Pro
NM_001171660.1:c.794G>C	NP_001165131.1:p.Arg265Pro
NM_001171661.1:c.626G>C	NP_001165132.1:p.Arg209Pro
NM_007326.4:c.626G>C	NP_015565.1:p.Arg209Pro
NM_000398.7:c.695G>C MANE Select	NP_000389.1:p.Arg232Pro
NM_001171660.2:c.794G>C	NP_001165131.1:p.Arg265Pro