Canonical Allele Identifier: CA411797683
Gene: CYB5R3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42627334G>T , CM000684.2:g.42627334G>T GRCh38
NC_000022.10:g.43023340G>T , CM000684.1:g.43023340G>T GRCh37
NC_000022.9:g.41353284G>T NCBI36
NG_012194.1:g.27066C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361740.9:c.735C>A ENSP00000354468.5:p.His245Gln
ENST00000402438.6:c.534C>A ENSP00000385679.1:p.His178Gln
ENST00000407332.6:c.621C>A ENSP00000384457.2:p.His207Gln
ENST00000407623.8:c.534C>A ENSP00000384834.3:p.His178Gln
ENST00000617178.5:c.140C>A
ENST00000684963.1:n.2343C>A
ENST00000686523.1:c.*552C>A ENSP00000508940.1:n.*552C>A
ENST00000687183.1:n.879C>A
ENST00000687198.1:c.534C>A ENSP00000508492.1:p.His178Gln
ENST00000688117.1:c.702C>A ENSP00000509015.1:p.His234Gln
ENST00000688244.1:c.334-3446C>A ENSP00000510355.1:n.334-3446C>A
ENST00000689001.1:n.1225C>A
ENST00000689195.1:c.519C>A ENSP00000509895.1:p.His173Gln
ENST00000689239.1:n.770C>A
ENST00000689795.1:n.765C>A
ENST00000690835.1:c.603C>A ENSP00000509038.1:p.His201Gln
ENST00000690993.1:n.1358C>A
ENST00000691295.1:c.*86C>A ENSP00000508706.1:n.*86C>A
ENST00000691918.1:c.582C>A ENSP00000509525.1:p.His194Gln
ENST00000692152.1:c.534C>A ENSP00000509317.1:p.His178Gln
ENST00000692344.1:n.1090C>A
ENST00000693363.1:c.645C>A ENSP00000510411.1:p.His215Gln
ENST00000693367.1:c.603C>A ENSP00000508815.1:p.His201Gln
ENST00000693639.1:c.596C>A ENSP00000510223.1:n.596C>A
ENST00000693646.1:c.509C>A ENSP00000508449.1:n.509C>A
ENST00000352397.10:c.603C>A MANE Select ENSP00000338461.6:p.His201Gln
ENST00000352397.9:c.603C>A ENSP00000338461.6:p.His201Gln
ENST00000361740.8:c.702C>A ENSP00000354468.4:p.His234Gln
ENST00000402438.5:c.534C>A ENSP00000385679.1:p.His178Gln
ENST00000407332.5:c.534C>A ENSP00000384457.1:p.His178Gln
ENST00000407623.7:c.534C>A ENSP00000384834.3:p.His178Gln
ENST00000470741.1:n.2737C>A
NM_000398.6:c.603C>A NP_000389.1:p.His201Gln
NM_001129819.2:c.534C>A NP_001123291.1:p.His178Gln
NM_001171660.1:c.702C>A NP_001165131.1:p.His234Gln
NM_001171661.1:c.534C>A NP_001165132.1:p.His178Gln
NM_007326.4:c.534C>A NP_015565.1:p.His178Gln
NM_000398.7:c.603C>A MANE Select NP_000389.1:p.His201Gln
NM_001171660.2:c.702C>A NP_001165131.1:p.His234Gln