Canonical Allele Identifier: CA114088
Gene: CYB5R3 HGNC NCBI

Linked Data

ClinVar Variation Id: 249
ClinVar RCV Id: RCV000000273
dbSNP Id: rs121965015

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42627326C>T , CM000684.2:g.42627326C>T GRCh38
NC_000022.10:g.43023332C>T , CM000684.1:g.43023332C>T GRCh37
NC_000022.9:g.41353276C>T NCBI36
NG_012194.1:g.27074G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352397.10:c.611G>A MANE Select ENSP00000338461.6:p.Cys204Tyr
ENST00000352397.9:c.611G>A ENSP00000338461.6:p.Cys204Tyr
ENST00000361740.8:n.710G>A ENSP00000354468.4:p.Cys237Tyr
ENST00000402438.5:c.542G>A ENSP00000385679.1:p.Cys181Tyr
ENST00000407332.5:c.542G>A ENSP00000384457.1:p.Cys181Tyr
ENST00000407623.7:c.542G>A ENSP00000384834.3:p.Cys181Tyr
ENST00000470741.1:n.2745G>A
NM_000398.6:c.611G>A NP_000389.1:p.Cys204Tyr
NM_001129819.2:c.542G>A NP_001123291.1:p.Cys181Tyr
NM_001171660.1:c.710G>A NP_001165131.1:p.Cys237Tyr
NM_001171661.1:c.542G>A NP_001165132.1:p.Cys181Tyr
NM_007326.4:c.542G>A NP_015565.1:p.Cys181Tyr
NM_000398.7:c.611G>A MANE Select NP_000389.1:p.Cys204Tyr
NM_001171660.2:c.710G>A NP_001165131.1:p.Cys237Tyr