Canonical Allele Identifier: CA114071
Gene: CYB5R3 HGNC NCBI

Linked Data

ClinVar Variation Id: 237
dbSNP Id: rs121965009

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42630899C>T , CM000684.2:g.42630899C>T GRCh38
NC_000022.10:g.43026905C>T , CM000684.1:g.43026905C>T GRCh37
NC_000022.9:g.41356849C>T NCBI36
NG_012194.1:g.23501G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361740.9:c.316G>A ENSP00000354468.5:p.Val106Met
ENST00000402438.6:c.247G>A ENSP00000385679.1:p.Val83Met
ENST00000407332.6:c.334G>A ENSP00000384457.2:p.Val112Met
ENST00000407623.8:c.247G>A ENSP00000384834.3:p.Val83Met
ENST00000438270.2:c.247G>A ENSP00000403439.2:p.Val83Met
ENST00000466276.2:n.383G>A
ENST00000686129.1:c.247G>A ENSP00000508623.1:p.Val83Met
ENST00000686523.1:c.*265G>A ENSP00000508940.1:n.*265G>A
ENST00000687183.1:n.377G>A
ENST00000687198.1:c.247G>A ENSP00000508492.1:p.Val83Met
ENST00000688117.1:c.415G>A ENSP00000509015.1:p.Val139Met
ENST00000688244.1:c.316G>A ENSP00000510355.1:p.Val106Met
ENST00000689001.1:n.723G>A
ENST00000689195.1:c.316G>A ENSP00000509895.1:p.Val106Met
ENST00000689239.1:n.483G>A
ENST00000689795.1:n.478G>A
ENST00000690835.1:c.316G>A ENSP00000509038.1:p.Val106Met
ENST00000690993.1:n.393G>A
ENST00000691295.1:c.316G>A ENSP00000508706.1:p.Val106Met
ENST00000691918.1:c.295G>A ENSP00000509525.1:p.Val99Met
ENST00000692152.1:c.247G>A ENSP00000509317.1:p.Val83Met
ENST00000692344.1:n.340G>A
ENST00000693157.1:c.236G>A ENSP00000510610.1:n.236G>A
ENST00000693363.1:c.316G>A ENSP00000510411.1:p.Val106Met
ENST00000693367.1:c.316G>A ENSP00000508815.1:p.Val106Met
ENST00000693639.1:c.309G>A ENSP00000510223.1:p.Ser103=
ENST00000693646.1:c.222G>A ENSP00000508449.1:p.Ser74=
ENST00000693716.1:n.544G>A
ENST00000352397.10:c.316G>A MANE Select ENSP00000338461.6:p.Val106Met
ENST00000352397.9:c.316G>A ENSP00000338461.6:p.Val106Met
ENST00000361740.8:c.415G>A ENSP00000354468.4:p.Val139Met
ENST00000402438.5:c.247G>A ENSP00000385679.1:p.Val83Met
ENST00000407332.5:c.247G>A ENSP00000384457.1:p.Val83Met
ENST00000407623.7:c.247G>A ENSP00000384834.3:p.Val83Met
ENST00000438270.1:c.247G>A ENSP00000403439.1:p.Val83Met
ENST00000470741.1:n.2450G>A
NM_000398.6:c.316G>A NP_000389.1:p.Val106Met
NM_001129819.2:c.247G>A NP_001123291.1:p.Val83Met
NM_001171660.1:c.415G>A NP_001165131.1:p.Val139Met
NM_001171661.1:c.247G>A NP_001165132.1:p.Val83Met
NM_007326.4:c.247G>A NP_015565.1:p.Val83Met
NM_000398.7:c.316G>A MANE Select NP_000389.1:p.Val106Met
NM_001171660.2:c.415G>A NP_001165131.1:p.Val139Met