Canonical Allele Identifier: CA411796358

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623812-T-A
• MyVariant Identifiers: chr22:g.43019818T>A (hg19) ; chr22:g.42623812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623812T>A , CM000684.2:g.42623812T>A	GRCh38
NC_000022.10:g.43019818T>A , CM000684.1:g.43019818T>A	GRCh37
NC_000022.9:g.41349762T>A	NCBI36
NG_012194.1:g.30588A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.842A>T	ENSP00000354468.5:p.Tyr281Phe
ENST00000402438.6:c.641A>T	ENSP00000385679.1:p.Tyr214Phe
ENST00000407332.6:c.728A>T	ENSP00000384457.2:p.Tyr243Phe
ENST00000407623.8:c.641A>T	ENSP00000384834.3:p.Tyr214Phe
ENST00000617178.5:c.247A>T
ENST00000684963.1:n.2450A>T
ENST00000685184.1:n.302A>T
ENST00000686523.1:c.*659A>T	ENSP00000508940.1:n.*659A>T
ENST00000687183.1:n.986A>T
ENST00000687198.1:c.641A>T	ENSP00000508492.1:p.Tyr214Phe
ENST00000688117.1:c.809A>T	ENSP00000509015.1:p.Tyr270Phe
ENST00000688244.1:c.410A>T	ENSP00000510355.1:p.Tyr137Phe
ENST00000689001.1:n.1332A>T
ENST00000689195.1:c.626A>T	ENSP00000509895.1:p.Tyr209Phe
ENST00000689239.1:n.877A>T
ENST00000689795.1:n.971A>T
ENST00000690835.1:c.*89A>T	ENSP00000509038.1:n.*89A>T
ENST00000690993.1:n.1465A>T
ENST00000691295.1:c.*193A>T	ENSP00000508706.1:n.*193A>T
ENST00000691918.1:c.1000A>T	ENSP00000509525.1:n.1000A>T
ENST00000692152.1:c.641A>T	ENSP00000509317.1:p.Tyr214Phe
ENST00000692344.1:n.1197A>T
ENST00000693363.1:c.752A>T	ENSP00000510411.1:p.Tyr251Phe
ENST00000693367.1:c.710A>T	ENSP00000508815.1:p.Tyr237Phe
ENST00000693639.1:c.703A>T	ENSP00000510223.1:n.703A>T
ENST00000693646.1:c.616A>T	ENSP00000508449.1:n.616A>T
ENST00000352397.10:c.710A>T MANE Select	ENSP00000338461.6:p.Tyr237Phe
ENST00000352397.9:c.710A>T	ENSP00000338461.6:p.Tyr237Phe
ENST00000361740.8:c.809A>T	ENSP00000354468.4:p.Tyr270Phe
ENST00000402438.5:c.641A>T	ENSP00000385679.1:p.Tyr214Phe
ENST00000407332.5:c.641A>T	ENSP00000384457.1:p.Tyr214Phe
ENST00000407623.7:c.641A>T	ENSP00000384834.3:p.Tyr214Phe
ENST00000470741.1:n.2844A>T
NM_000398.6:c.710A>T	NP_000389.1:p.Tyr237Phe
NM_001129819.2:c.641A>T	NP_001123291.1:p.Tyr214Phe
NM_001171660.1:c.809A>T	NP_001165131.1:p.Tyr270Phe
NM_001171661.1:c.641A>T	NP_001165132.1:p.Tyr214Phe
NM_007326.4:c.641A>T	NP_015565.1:p.Tyr214Phe
NM_000398.7:c.710A>T MANE Select	NP_000389.1:p.Tyr237Phe
NM_001171660.2:c.809A>T	NP_001165131.1:p.Tyr270Phe