Canonical Allele Identifier: CA411796354

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019817G>T (hg19) ; chr22:g.42623811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623811G>T , CM000684.2:g.42623811G>T	GRCh38
NC_000022.10:g.43019817G>T , CM000684.1:g.43019817G>T	GRCh37
NC_000022.9:g.41349761G>T	NCBI36
NG_012194.1:g.30589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.843C>A	ENSP00000354468.5:p.Tyr281Ter
ENST00000402438.6:c.642C>A	ENSP00000385679.1:p.Tyr214Ter
ENST00000407332.6:c.729C>A	ENSP00000384457.2:p.Tyr243Ter
ENST00000407623.8:c.642C>A	ENSP00000384834.3:p.Tyr214Ter
ENST00000617178.5:c.248C>A
ENST00000684963.1:n.2451C>A
ENST00000685184.1:n.303C>A
ENST00000686523.1:c.*660C>A	ENSP00000508940.1:n.*660C>A
ENST00000687183.1:n.987C>A
ENST00000687198.1:c.642C>A	ENSP00000508492.1:p.Tyr214Ter
ENST00000688117.1:c.810C>A	ENSP00000509015.1:p.Tyr270Ter
ENST00000688244.1:c.411C>A	ENSP00000510355.1:p.Tyr137Ter
ENST00000689001.1:n.1333C>A
ENST00000689195.1:c.627C>A	ENSP00000509895.1:p.Tyr209Ter
ENST00000689239.1:n.878C>A
ENST00000689795.1:n.972C>A
ENST00000690835.1:c.*90C>A	ENSP00000509038.1:n.*90C>A
ENST00000690993.1:n.1466C>A
ENST00000691295.1:c.*194C>A	ENSP00000508706.1:n.*194C>A
ENST00000691918.1:c.1001C>A	ENSP00000509525.1:n.1001C>A
ENST00000692152.1:c.642C>A	ENSP00000509317.1:p.Tyr214Ter
ENST00000692344.1:n.1198C>A
ENST00000693363.1:c.753C>A	ENSP00000510411.1:p.Tyr251Ter
ENST00000693367.1:c.711C>A	ENSP00000508815.1:p.Tyr237Ter
ENST00000693639.1:c.704C>A	ENSP00000510223.1:n.704C>A
ENST00000693646.1:c.617C>A	ENSP00000508449.1:n.617C>A
ENST00000352397.10:c.711C>A MANE Select	ENSP00000338461.6:p.Tyr237Ter
ENST00000352397.9:c.711C>A	ENSP00000338461.6:p.Tyr237Ter
ENST00000361740.8:c.810C>A	ENSP00000354468.4:p.Tyr270Ter
ENST00000402438.5:c.642C>A	ENSP00000385679.1:p.Tyr214Ter
ENST00000407332.5:c.642C>A	ENSP00000384457.1:p.Tyr214Ter
ENST00000407623.7:c.642C>A	ENSP00000384834.3:p.Tyr214Ter
ENST00000470741.1:n.2845C>A
NM_000398.6:c.711C>A	NP_000389.1:p.Tyr237Ter
NM_001129819.2:c.642C>A	NP_001123291.1:p.Tyr214Ter
NM_001171660.1:c.810C>A	NP_001165131.1:p.Tyr270Ter
NM_001171661.1:c.642C>A	NP_001165132.1:p.Tyr214Ter
NM_007326.4:c.642C>A	NP_015565.1:p.Tyr214Ter
NM_000398.7:c.711C>A MANE Select	NP_000389.1:p.Tyr237Ter
NM_001171660.2:c.810C>A	NP_001165131.1:p.Tyr270Ter