Canonical Allele Identifier: CA10269575
Community Standard Title: NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42619883C>G , CM000684.2:g.42619883C>G GRCh38
NC_000022.10:g.43015889C>G , CM000684.1:g.43015889C>G GRCh37
NC_000022.9:g.41345833C>G NCBI36
NG_012194.1:g.34517G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000398.7:c.796G>C MANE Select NP_000389.1:p.Glu266Gln
ENST00000352397.10:c.796G>C MANE Select ENSP00000338461.6:p.Glu266Gln
NM_000398.6:c.796G>C NP_000389.1:p.Glu266Gln
NM_001129819.2:c.727G>C NP_001123291.1:p.Glu243Gln
NM_001171660.1:c.895G>C NP_001165131.1:p.Glu299Gln
NM_001171660.2:c.895G>C NP_001165131.1:p.Glu299Gln
NM_001171661.1:c.727G>C NP_001165132.1:p.Glu243Gln
NM_007326.4:c.727G>C NP_015565.1:p.Glu243Gln
ENST00000352397.9:c.796G>C ENSP00000338461.6:p.Glu266Gln
ENST00000361740.8:c.895G>C ENSP00000354468.4:p.Glu299Gln
ENST00000361740.9:c.928G>C ENSP00000354468.5:p.Glu310Gln
ENST00000402438.5:c.727G>C ENSP00000385679.1:p.Glu243Gln
ENST00000402438.6:c.727G>C ENSP00000385679.1:p.Glu243Gln
ENST00000407332.5:c.727G>C ENSP00000384457.1:p.Glu243Gln
ENST00000407332.6:c.814G>C ENSP00000384457.2:p.Glu272Gln
ENST00000407623.7:c.727G>C ENSP00000384834.3:p.Glu243Gln
ENST00000407623.8:c.727G>C ENSP00000384834.3:p.Glu243Gln
ENST00000470741.1:n.2930G>C
ENST00000617178.5:c.333G>C
ENST00000684963.1:n.2536G>C
ENST00000685184.1:n.388G>C
ENST00000686523.1:c.*745G>C ENSP00000508940.1:n.*745G>C
ENST00000687183.1:n.1072G>C
ENST00000687198.1:c.727G>C ENSP00000508492.1:p.Glu243Gln
ENST00000688117.1:c.895G>C ENSP00000509015.1:p.Glu299Gln
ENST00000688244.1:c.496G>C ENSP00000510355.1:p.Glu166Gln
ENST00000689001.1:n.1418G>C
ENST00000689195.1:c.712G>C ENSP00000509895.1:p.Glu238Gln
ENST00000689239.1:n.963G>C
ENST00000689795.1:n.1057G>C
ENST00000690835.1:c.*175G>C ENSP00000509038.1:n.*175G>C
ENST00000690993.1:n.1551G>C
ENST00000691295.1:c.*279G>C ENSP00000508706.1:n.*279G>C
ENST00000692152.1:c.727G>C ENSP00000509317.1:p.Glu243Gln
ENST00000692344.1:n.1283G>C
ENST00000693363.1:c.838G>C ENSP00000510411.1:p.Glu280Gln
ENST00000693367.1:c.796G>C ENSP00000508815.1:p.Glu266Gln