Canonical Allele Identifier: CA514812827
Gene: CYB5R3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.43019832G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42623826G>C , CM000684.2:g.42623826G>C GRCh38
NC_000022.10:g.43019832G>C , CM000684.1:g.43019832G>C GRCh37
NC_000022.9:g.41349776G>C NCBI36
NG_012194.1:g.30574C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361740.9:c.828C>G ENSP00000354468.5:p.Arg276=
ENST00000402438.6:c.627C>G ENSP00000385679.1:p.Arg209=
ENST00000407332.6:c.714C>G ENSP00000384457.2:p.Arg238=
ENST00000407623.8:c.627C>G ENSP00000384834.3:p.Arg209=
ENST00000617178.5:c.233C>G
ENST00000684963.1:n.2436C>G
ENST00000685184.1:n.288C>G
ENST00000686523.1:c.*645C>G ENSP00000508940.1:n.*645C>G
ENST00000687183.1:n.972C>G
ENST00000687198.1:c.627C>G ENSP00000508492.1:p.Arg209=
ENST00000688117.1:c.795C>G ENSP00000509015.1:p.Arg265=
ENST00000688244.1:c.396C>G ENSP00000510355.1:p.Arg132=
ENST00000689001.1:n.1318C>G
ENST00000689195.1:c.612C>G ENSP00000509895.1:p.Arg204=
ENST00000689239.1:n.863C>G
ENST00000689795.1:n.957C>G
ENST00000690835.1:c.*75C>G ENSP00000509038.1:n.*75C>G
ENST00000690993.1:n.1451C>G
ENST00000691295.1:c.*179C>G ENSP00000508706.1:n.*179C>G
ENST00000691918.1:c.986C>G ENSP00000509525.1:n.986C>G
ENST00000692152.1:c.627C>G ENSP00000509317.1:p.Arg209=
ENST00000692344.1:n.1183C>G
ENST00000693363.1:c.738C>G ENSP00000510411.1:p.Arg246=
ENST00000693367.1:c.696C>G ENSP00000508815.1:p.Arg232=
ENST00000693639.1:c.689C>G ENSP00000510223.1:n.689C>G
ENST00000693646.1:c.602C>G ENSP00000508449.1:n.602C>G
ENST00000352397.10:c.696C>G MANE Select ENSP00000338461.6:p.Arg232=
ENST00000352397.9:c.696C>G ENSP00000338461.6:p.Arg232=
ENST00000361740.8:c.795C>G ENSP00000354468.4:p.Arg265=
ENST00000402438.5:c.627C>G ENSP00000385679.1:p.Arg209=
ENST00000407332.5:c.627C>G ENSP00000384457.1:p.Arg209=
ENST00000407623.7:c.627C>G ENSP00000384834.3:p.Arg209=
ENST00000470741.1:n.2830C>G
NM_000398.6:c.696C>G NP_000389.1:p.Arg232=
NM_001129819.2:c.627C>G NP_001123291.1:p.Arg209=
NM_001171660.1:c.795C>G NP_001165131.1:p.Arg265=
NM_001171661.1:c.627C>G NP_001165132.1:p.Arg209=
NM_007326.4:c.627C>G NP_015565.1:p.Arg209=
NM_000398.7:c.696C>G MANE Select NP_000389.1:p.Arg232=
NM_001171660.2:c.795C>G NP_001165131.1:p.Arg265=