Canonical Allele Identifier: CA114070
Gene: CYB5R3 HGNC NCBI

Linked Data

ClinVar Variation Id: 236
ClinVar RCV Id: RCV000000260
dbSNP Id: rs121965008

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42628169A>G , CM000684.2:g.42628169A>G GRCh38
NC_000022.10:g.43024175A>G , CM000684.1:g.43024175A>G GRCh37
NC_000022.9:g.41354119A>G NCBI36
NG_012194.1:g.26231T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361740.9:c.446T>C ENSP00000354468.5:p.Leu149Pro
ENST00000402438.6:c.377T>C ENSP00000385679.1:p.Leu126Pro
ENST00000407332.6:c.464T>C ENSP00000384457.2:p.Leu155Pro
ENST00000407623.8:c.377T>C ENSP00000384834.3:p.Leu126Pro
ENST00000438270.2:c.377T>C ENSP00000403439.2:p.Leu126Pro
ENST00000684963.1:n.1723T>C
ENST00000686129.1:c.377T>C ENSP00000508623.1:p.Leu126Pro
ENST00000686523.1:c.*395T>C ENSP00000508940.1:n.*395T>C
ENST00000687183.1:n.507T>C
ENST00000687198.1:c.377T>C ENSP00000508492.1:p.Leu126Pro
ENST00000688117.1:c.545T>C ENSP00000509015.1:p.Leu182Pro
ENST00000688244.1:c.333+2713T>C ENSP00000510355.1:n.333+2713T>C
ENST00000689001.1:n.853T>C
ENST00000689195.1:c.446T>C ENSP00000509895.1:p.Leu149Pro
ENST00000689239.1:n.613T>C
ENST00000689795.1:n.608T>C
ENST00000690835.1:c.446T>C ENSP00000509038.1:p.Leu149Pro
ENST00000690993.1:n.523T>C
ENST00000691295.1:c.334-481T>C ENSP00000508706.1:n.334-481T>C
ENST00000691918.1:c.425T>C ENSP00000509525.1:p.Leu142Pro
ENST00000692152.1:c.377T>C ENSP00000509317.1:p.Leu126Pro
ENST00000692344.1:n.470T>C
ENST00000693157.1:c.366T>C ENSP00000510610.1:n.366T>C
ENST00000693363.1:c.446T>C ENSP00000510411.1:p.Leu149Pro
ENST00000693367.1:c.446T>C ENSP00000508815.1:p.Leu149Pro
ENST00000693639.1:c.439T>C ENSP00000510223.1:p.Trp147Arg
ENST00000693646.1:c.352T>C ENSP00000508449.1:p.Trp118Arg
ENST00000352397.10:c.446T>C MANE Select ENSP00000338461.6:p.Leu149Pro
ENST00000352397.9:c.446T>C ENSP00000338461.6:p.Leu149Pro
ENST00000361740.8:c.545T>C ENSP00000354468.4:p.Leu182Pro
ENST00000402438.5:c.377T>C ENSP00000385679.1:p.Leu126Pro
ENST00000407332.5:c.377T>C ENSP00000384457.1:p.Leu126Pro
ENST00000407623.7:c.377T>C ENSP00000384834.3:p.Leu126Pro
ENST00000438270.1:c.377T>C ENSP00000403439.1:p.Leu126Pro
ENST00000470741.1:n.2580T>C
NM_000398.6:c.446T>C NP_000389.1:p.Leu149Pro
NM_001129819.2:c.377T>C NP_001123291.1:p.Leu126Pro
NM_001171660.1:c.545T>C NP_001165131.1:p.Leu182Pro
NM_001171661.1:c.377T>C NP_001165132.1:p.Leu126Pro
NM_007326.4:c.377T>C NP_015565.1:p.Leu126Pro
NM_000398.7:c.446T>C MANE Select NP_000389.1:p.Leu149Pro
NM_001171660.2:c.545T>C NP_001165131.1:p.Leu182Pro