Canonical Allele Identifier: CA411796362

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019819A>G (hg19) ; chr22:g.42623813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623813A>G , CM000684.2:g.42623813A>G	GRCh38
NC_000022.10:g.43019819A>G , CM000684.1:g.43019819A>G	GRCh37
NC_000022.9:g.41349763A>G	NCBI36
NG_012194.1:g.30587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.841T>C	ENSP00000354468.5:p.Tyr281His
ENST00000402438.6:c.640T>C	ENSP00000385679.1:p.Tyr214His
ENST00000407332.6:c.727T>C	ENSP00000384457.2:p.Tyr243His
ENST00000407623.8:c.640T>C	ENSP00000384834.3:p.Tyr214His
ENST00000617178.5:c.246T>C
ENST00000684963.1:n.2449T>C
ENST00000685184.1:n.301T>C
ENST00000686523.1:c.*658T>C	ENSP00000508940.1:n.*658T>C
ENST00000687183.1:n.985T>C
ENST00000687198.1:c.640T>C	ENSP00000508492.1:p.Tyr214His
ENST00000688117.1:c.808T>C	ENSP00000509015.1:p.Tyr270His
ENST00000688244.1:c.409T>C	ENSP00000510355.1:p.Tyr137His
ENST00000689001.1:n.1331T>C
ENST00000689195.1:c.625T>C	ENSP00000509895.1:p.Tyr209His
ENST00000689239.1:n.876T>C
ENST00000689795.1:n.970T>C
ENST00000690835.1:c.*88T>C	ENSP00000509038.1:n.*88T>C
ENST00000690993.1:n.1464T>C
ENST00000691295.1:c.*192T>C	ENSP00000508706.1:n.*192T>C
ENST00000691918.1:c.999T>C	ENSP00000509525.1:n.999T>C
ENST00000692152.1:c.640T>C	ENSP00000509317.1:p.Tyr214His
ENST00000692344.1:n.1196T>C
ENST00000693363.1:c.751T>C	ENSP00000510411.1:p.Tyr251His
ENST00000693367.1:c.709T>C	ENSP00000508815.1:p.Tyr237His
ENST00000693639.1:c.702T>C	ENSP00000510223.1:n.702T>C
ENST00000693646.1:c.615T>C	ENSP00000508449.1:n.615T>C
ENST00000352397.10:c.709T>C MANE Select	ENSP00000338461.6:p.Tyr237His
ENST00000352397.9:c.709T>C	ENSP00000338461.6:p.Tyr237His
ENST00000361740.8:c.808T>C	ENSP00000354468.4:p.Tyr270His
ENST00000402438.5:c.640T>C	ENSP00000385679.1:p.Tyr214His
ENST00000407332.5:c.640T>C	ENSP00000384457.1:p.Tyr214His
ENST00000407623.7:c.640T>C	ENSP00000384834.3:p.Tyr214His
ENST00000470741.1:n.2843T>C
NM_000398.6:c.709T>C	NP_000389.1:p.Tyr237His
NM_001129819.2:c.640T>C	NP_001123291.1:p.Tyr214His
NM_001171660.1:c.808T>C	NP_001165131.1:p.Tyr270His
NM_001171661.1:c.640T>C	NP_001165132.1:p.Tyr214His
NM_007326.4:c.640T>C	NP_015565.1:p.Tyr214His
NM_000398.7:c.709T>C MANE Select	NP_000389.1:p.Tyr237His
NM_001171660.2:c.808T>C	NP_001165131.1:p.Tyr270His