Canonical Allele Identifier: CA514813076

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019877C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623871C>T , CM000684.2:g.42623871C>T	GRCh38
NC_000022.10:g.43019877C>T , CM000684.1:g.43019877C>T	GRCh37
NC_000022.9:g.41349821C>T	NCBI36
NG_012194.1:g.30529G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.783G>A	ENSP00000354468.5:p.Leu261=
ENST00000402438.6:c.582G>A	ENSP00000385679.1:p.Leu194=
ENST00000407332.6:c.669G>A	ENSP00000384457.2:p.Leu223=
ENST00000407623.8:c.582G>A	ENSP00000384834.3:p.Leu194=
ENST00000617178.5:c.188G>A
ENST00000684963.1:n.2391G>A
ENST00000685184.1:n.243G>A
ENST00000686523.1:c.*600G>A	ENSP00000508940.1:n.*600G>A
ENST00000687183.1:n.927G>A
ENST00000687198.1:c.582G>A	ENSP00000508492.1:p.Leu194=
ENST00000688117.1:c.750G>A	ENSP00000509015.1:p.Leu250=
ENST00000688244.1:c.351G>A	ENSP00000510355.1:p.Leu117=
ENST00000689001.1:n.1273G>A
ENST00000689195.1:c.567G>A	ENSP00000509895.1:p.Leu189=
ENST00000689239.1:n.818G>A
ENST00000689795.1:n.912G>A
ENST00000690835.1:c.*30G>A	ENSP00000509038.1:n.*30G>A
ENST00000690993.1:n.1406G>A
ENST00000691295.1:c.*134G>A	ENSP00000508706.1:n.*134G>A
ENST00000691918.1:c.941G>A	ENSP00000509525.1:n.941G>A
ENST00000692152.1:c.582G>A	ENSP00000509317.1:p.Leu194=
ENST00000692344.1:n.1138G>A
ENST00000693363.1:c.693G>A	ENSP00000510411.1:p.Leu231=
ENST00000693367.1:c.651G>A	ENSP00000508815.1:p.Leu217=
ENST00000693639.1:c.644G>A	ENSP00000510223.1:n.644G>A
ENST00000693646.1:c.557G>A	ENSP00000508449.1:n.557G>A
ENST00000352397.10:c.651G>A MANE Select	ENSP00000338461.6:p.Leu217=
ENST00000352397.9:c.651G>A	ENSP00000338461.6:p.Leu217=
ENST00000361740.8:c.750G>A	ENSP00000354468.4:p.Leu250=
ENST00000402438.5:c.582G>A	ENSP00000385679.1:p.Leu194=
ENST00000407332.5:c.582G>A	ENSP00000384457.1:p.Leu194=
ENST00000407623.7:c.582G>A	ENSP00000384834.3:p.Leu194=
ENST00000470741.1:n.2785G>A
NM_000398.6:c.651G>A	NP_000389.1:p.Leu217=
NM_001129819.2:c.582G>A	NP_001123291.1:p.Leu194=
NM_001171660.1:c.750G>A	NP_001165131.1:p.Leu250=
NM_001171661.1:c.582G>A	NP_001165132.1:p.Leu194=
NM_007326.4:c.582G>A	NP_015565.1:p.Leu194=
NM_000398.7:c.651G>A MANE Select	NP_000389.1:p.Leu217=
NM_001171660.2:c.750G>A	NP_001165131.1:p.Leu250=