Canonical Allele Identifier: CA411796318

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019809T>A (hg19) ; chr22:g.42623803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623803T>A , CM000684.2:g.42623803T>A	GRCh38
NC_000022.10:g.43019809T>A , CM000684.1:g.43019809T>A	GRCh37
NC_000022.9:g.41349753T>A	NCBI36
NG_012194.1:g.30597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.851A>T	ENSP00000354468.5:p.Asp284Val
ENST00000402438.6:c.650A>T	ENSP00000385679.1:p.Asp217Val
ENST00000407332.6:c.737A>T	ENSP00000384457.2:p.Asp246Val
ENST00000407623.8:c.650A>T	ENSP00000384834.3:p.Asp217Val
ENST00000617178.5:c.256A>T
ENST00000684963.1:n.2459A>T
ENST00000685184.1:n.311A>T
ENST00000686523.1:c.*668A>T	ENSP00000508940.1:n.*668A>T
ENST00000687183.1:n.995A>T
ENST00000687198.1:c.650A>T	ENSP00000508492.1:p.Asp217Val
ENST00000688117.1:c.818A>T	ENSP00000509015.1:p.Asp273Val
ENST00000688244.1:c.419A>T	ENSP00000510355.1:p.Asp140Val
ENST00000689001.1:n.1341A>T
ENST00000689195.1:c.635A>T	ENSP00000509895.1:p.Asp212Val
ENST00000689239.1:n.886A>T
ENST00000689795.1:n.980A>T
ENST00000690835.1:c.*98A>T	ENSP00000509038.1:n.*98A>T
ENST00000690993.1:n.1474A>T
ENST00000691295.1:c.*202A>T	ENSP00000508706.1:n.*202A>T
ENST00000691918.1:c.1009A>T	ENSP00000509525.1:n.1009A>T
ENST00000692152.1:c.650A>T	ENSP00000509317.1:p.Asp217Val
ENST00000692344.1:n.1206A>T
ENST00000693363.1:c.761A>T	ENSP00000510411.1:p.Asp254Val
ENST00000693367.1:c.719A>T	ENSP00000508815.1:p.Asp240Val
ENST00000693639.1:c.712A>T	ENSP00000510223.1:n.712A>T
ENST00000693646.1:c.625A>T	ENSP00000508449.1:n.625A>T
ENST00000352397.10:c.719A>T MANE Select	ENSP00000338461.6:p.Asp240Val
ENST00000352397.9:c.719A>T	ENSP00000338461.6:p.Asp240Val
ENST00000361740.8:c.818A>T	ENSP00000354468.4:p.Asp273Val
ENST00000402438.5:c.650A>T	ENSP00000385679.1:p.Asp217Val
ENST00000407332.5:c.650A>T	ENSP00000384457.1:p.Asp217Val
ENST00000407623.7:c.650A>T	ENSP00000384834.3:p.Asp217Val
ENST00000470741.1:n.2853A>T
NM_000398.6:c.719A>T	NP_000389.1:p.Asp240Val
NM_001129819.2:c.650A>T	NP_001123291.1:p.Asp217Val
NM_001171660.1:c.818A>T	NP_001165131.1:p.Asp273Val
NM_001171661.1:c.650A>T	NP_001165132.1:p.Asp217Val
NM_007326.4:c.650A>T	NP_015565.1:p.Asp217Val
NM_000398.7:c.719A>T MANE Select	NP_000389.1:p.Asp240Val
NM_001171660.2:c.818A>T	NP_001165131.1:p.Asp273Val