Canonical Allele Identifier: CA411796421

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019831A>G (hg19) ; chr22:g.42623825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623825A>G , CM000684.2:g.42623825A>G	GRCh38
NC_000022.10:g.43019831A>G , CM000684.1:g.43019831A>G	GRCh37
NC_000022.9:g.41349775A>G	NCBI36
NG_012194.1:g.30575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.829T>C	ENSP00000354468.5:p.Phe277Leu
ENST00000402438.6:c.628T>C	ENSP00000385679.1:p.Phe210Leu
ENST00000407332.6:c.715T>C	ENSP00000384457.2:p.Phe239Leu
ENST00000407623.8:c.628T>C	ENSP00000384834.3:p.Phe210Leu
ENST00000617178.5:c.234T>C
ENST00000684963.1:n.2437T>C
ENST00000685184.1:n.289T>C
ENST00000686523.1:c.*646T>C	ENSP00000508940.1:n.*646T>C
ENST00000687183.1:n.973T>C
ENST00000687198.1:c.628T>C	ENSP00000508492.1:p.Phe210Leu
ENST00000688117.1:c.796T>C	ENSP00000509015.1:p.Phe266Leu
ENST00000688244.1:c.397T>C	ENSP00000510355.1:p.Phe133Leu
ENST00000689001.1:n.1319T>C
ENST00000689195.1:c.613T>C	ENSP00000509895.1:p.Phe205Leu
ENST00000689239.1:n.864T>C
ENST00000689795.1:n.958T>C
ENST00000690835.1:c.*76T>C	ENSP00000509038.1:n.*76T>C
ENST00000690993.1:n.1452T>C
ENST00000691295.1:c.*180T>C	ENSP00000508706.1:n.*180T>C
ENST00000691918.1:c.987T>C	ENSP00000509525.1:n.987T>C
ENST00000692152.1:c.628T>C	ENSP00000509317.1:p.Phe210Leu
ENST00000692344.1:n.1184T>C
ENST00000693363.1:c.739T>C	ENSP00000510411.1:p.Phe247Leu
ENST00000693367.1:c.697T>C	ENSP00000508815.1:p.Phe233Leu
ENST00000693639.1:c.690T>C	ENSP00000510223.1:n.690T>C
ENST00000693646.1:c.603T>C	ENSP00000508449.1:n.603T>C
ENST00000352397.10:c.697T>C MANE Select	ENSP00000338461.6:p.Phe233Leu
ENST00000352397.9:c.697T>C	ENSP00000338461.6:p.Phe233Leu
ENST00000361740.8:c.796T>C	ENSP00000354468.4:p.Phe266Leu
ENST00000402438.5:c.628T>C	ENSP00000385679.1:p.Phe210Leu
ENST00000407332.5:c.628T>C	ENSP00000384457.1:p.Phe210Leu
ENST00000407623.7:c.628T>C	ENSP00000384834.3:p.Phe210Leu
ENST00000470741.1:n.2831T>C
NM_000398.6:c.697T>C	NP_000389.1:p.Phe233Leu
NM_001129819.2:c.628T>C	NP_001123291.1:p.Phe210Leu
NM_001171660.1:c.796T>C	NP_001165131.1:p.Phe266Leu
NM_001171661.1:c.628T>C	NP_001165132.1:p.Phe210Leu
NM_007326.4:c.628T>C	NP_015565.1:p.Phe210Leu
NM_000398.7:c.697T>C MANE Select	NP_000389.1:p.Phe233Leu
NM_001171660.2:c.796T>C	NP_001165131.1:p.Phe266Leu