Canonical Allele Identifier: CA10269761
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42628180G>A , CM000684.2:g.42628180G>A GRCh38
NC_000022.10:g.43024186G>A , CM000684.1:g.43024186G>A GRCh37
NC_000022.9:g.41354130G>A NCBI36
NG_012194.1:g.26220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361740.9:c.435C>T ENSP00000354468.5:p.Pro145=
ENST00000402438.6:c.366C>T ENSP00000385679.1:p.Pro122=
ENST00000407332.6:c.453C>T ENSP00000384457.2:p.Pro151=
ENST00000407623.8:c.366C>T ENSP00000384834.3:p.Pro122=
ENST00000438270.2:c.366C>T ENSP00000403439.2:p.Pro122=
ENST00000684963.1:n.1712C>T
ENST00000686129.1:c.366C>T ENSP00000508623.1:p.Pro122=
ENST00000686523.1:c.*384C>T ENSP00000508940.1:n.*384C>T
ENST00000687183.1:n.496C>T
ENST00000687198.1:c.366C>T ENSP00000508492.1:p.Pro122=
ENST00000688117.1:c.534C>T ENSP00000509015.1:p.Pro178=
ENST00000688244.1:c.333+2702C>T ENSP00000510355.1:n.333+2702C>T
ENST00000689001.1:n.842C>T
ENST00000689195.1:c.435C>T ENSP00000509895.1:p.Pro145=
ENST00000689239.1:n.602C>T
ENST00000689795.1:n.597C>T
ENST00000690835.1:c.435C>T ENSP00000509038.1:p.Pro145=
ENST00000690993.1:n.512C>T
ENST00000691295.1:c.334-492C>T ENSP00000508706.1:n.334-492C>T
ENST00000691918.1:c.414C>T ENSP00000509525.1:p.Pro138=
ENST00000692152.1:c.366C>T ENSP00000509317.1:p.Pro122=
ENST00000692344.1:n.459C>T
ENST00000693157.1:c.355C>T ENSP00000510610.1:n.355C>T
ENST00000693363.1:c.435C>T ENSP00000510411.1:p.Pro145=
ENST00000693367.1:c.435C>T ENSP00000508815.1:p.Pro145=
ENST00000693639.1:c.428C>T ENSP00000510223.1:p.Pro143Leu
ENST00000693646.1:c.341C>T ENSP00000508449.1:p.Pro114Leu
ENST00000352397.10:c.435C>T MANE Select ENSP00000338461.6:p.Pro145=
ENST00000352397.9:c.435C>T ENSP00000338461.6:p.Pro145=
ENST00000361740.8:c.534C>T ENSP00000354468.4:p.Pro178=
ENST00000402438.5:c.366C>T ENSP00000385679.1:p.Pro122=
ENST00000407332.5:c.366C>T ENSP00000384457.1:p.Pro122=
ENST00000407623.7:c.366C>T ENSP00000384834.3:p.Pro122=
ENST00000438270.1:c.366C>T ENSP00000403439.1:p.Pro122=
ENST00000470741.1:n.2569C>T
NM_000398.6:c.435C>T NP_000389.1:p.Pro145=
NM_001129819.2:c.366C>T NP_001123291.1:p.Pro122=
NM_001171660.1:c.534C>T NP_001165131.1:p.Pro178=
NM_001171661.1:c.366C>T NP_001165132.1:p.Pro122=
NM_007326.4:c.366C>T NP_015565.1:p.Pro122=
NM_000398.7:c.435C>T MANE Select NP_000389.1:p.Pro145=
NM_001171660.2:c.534C>T NP_001165131.1:p.Pro178=