Canonical Allele Identifier: CA411796564

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019856T>A (hg19) ; chr22:g.42623850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623850T>A , CM000684.2:g.42623850T>A	GRCh38
NC_000022.10:g.43019856T>A , CM000684.1:g.43019856T>A	GRCh37
NC_000022.9:g.41349800T>A	NCBI36
NG_012194.1:g.30550A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.804A>T	ENSP00000354468.5:p.Glu268Asp
ENST00000402438.6:c.603A>T	ENSP00000385679.1:p.Glu201Asp
ENST00000407332.6:c.690A>T	ENSP00000384457.2:p.Glu230Asp
ENST00000407623.8:c.603A>T	ENSP00000384834.3:p.Glu201Asp
ENST00000617178.5:c.209A>T
ENST00000684963.1:n.2412A>T
ENST00000685184.1:n.264A>T
ENST00000686523.1:c.*621A>T	ENSP00000508940.1:n.*621A>T
ENST00000687183.1:n.948A>T
ENST00000687198.1:c.603A>T	ENSP00000508492.1:p.Glu201Asp
ENST00000688117.1:c.771A>T	ENSP00000509015.1:p.Glu257Asp
ENST00000688244.1:c.372A>T	ENSP00000510355.1:p.Glu124Asp
ENST00000689001.1:n.1294A>T
ENST00000689195.1:c.588A>T	ENSP00000509895.1:p.Glu196Asp
ENST00000689239.1:n.839A>T
ENST00000689795.1:n.933A>T
ENST00000690835.1:c.*51A>T	ENSP00000509038.1:n.*51A>T
ENST00000690993.1:n.1427A>T
ENST00000691295.1:c.*155A>T	ENSP00000508706.1:n.*155A>T
ENST00000691918.1:c.962A>T	ENSP00000509525.1:n.962A>T
ENST00000692152.1:c.603A>T	ENSP00000509317.1:p.Glu201Asp
ENST00000692344.1:n.1159A>T
ENST00000693363.1:c.714A>T	ENSP00000510411.1:p.Glu238Asp
ENST00000693367.1:c.672A>T	ENSP00000508815.1:p.Glu224Asp
ENST00000693639.1:c.665A>T	ENSP00000510223.1:n.665A>T
ENST00000693646.1:c.578A>T	ENSP00000508449.1:n.578A>T
ENST00000352397.10:c.672A>T MANE Select	ENSP00000338461.6:p.Glu224Asp
ENST00000352397.9:c.672A>T	ENSP00000338461.6:p.Glu224Asp
ENST00000361740.8:c.771A>T	ENSP00000354468.4:p.Glu257Asp
ENST00000402438.5:c.603A>T	ENSP00000385679.1:p.Glu201Asp
ENST00000407332.5:c.603A>T	ENSP00000384457.1:p.Glu201Asp
ENST00000407623.7:c.603A>T	ENSP00000384834.3:p.Glu201Asp
ENST00000470741.1:n.2806A>T
NM_000398.6:c.672A>T	NP_000389.1:p.Glu224Asp
NM_001129819.2:c.603A>T	NP_001123291.1:p.Glu201Asp
NM_001171660.1:c.771A>T	NP_001165131.1:p.Glu257Asp
NM_001171661.1:c.603A>T	NP_001165132.1:p.Glu201Asp
NM_007326.4:c.603A>T	NP_015565.1:p.Glu201Asp
NM_000398.7:c.672A>T MANE Select	NP_000389.1:p.Glu224Asp
NM_001171660.2:c.771A>T	NP_001165131.1:p.Glu257Asp