Canonical Allele Identifier: CA411796414

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019830A>C (hg19) ; chr22:g.42623824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623824A>C , CM000684.2:g.42623824A>C	GRCh38
NC_000022.10:g.43019830A>C , CM000684.1:g.43019830A>C	GRCh37
NC_000022.9:g.41349774A>C	NCBI36
NG_012194.1:g.30576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.830T>G	ENSP00000354468.5:p.Phe277Cys
ENST00000402438.6:c.629T>G	ENSP00000385679.1:p.Phe210Cys
ENST00000407332.6:c.716T>G	ENSP00000384457.2:p.Phe239Cys
ENST00000407623.8:c.629T>G	ENSP00000384834.3:p.Phe210Cys
ENST00000617178.5:c.235T>G
ENST00000684963.1:n.2438T>G
ENST00000685184.1:n.290T>G
ENST00000686523.1:c.*647T>G	ENSP00000508940.1:n.*647T>G
ENST00000687183.1:n.974T>G
ENST00000687198.1:c.629T>G	ENSP00000508492.1:p.Phe210Cys
ENST00000688117.1:c.797T>G	ENSP00000509015.1:p.Phe266Cys
ENST00000688244.1:c.398T>G	ENSP00000510355.1:p.Phe133Cys
ENST00000689001.1:n.1320T>G
ENST00000689195.1:c.614T>G	ENSP00000509895.1:p.Phe205Cys
ENST00000689239.1:n.865T>G
ENST00000689795.1:n.959T>G
ENST00000690835.1:c.*77T>G	ENSP00000509038.1:n.*77T>G
ENST00000690993.1:n.1453T>G
ENST00000691295.1:c.*181T>G	ENSP00000508706.1:n.*181T>G
ENST00000691918.1:c.988T>G	ENSP00000509525.1:n.988T>G
ENST00000692152.1:c.629T>G	ENSP00000509317.1:p.Phe210Cys
ENST00000692344.1:n.1185T>G
ENST00000693363.1:c.740T>G	ENSP00000510411.1:p.Phe247Cys
ENST00000693367.1:c.698T>G	ENSP00000508815.1:p.Phe233Cys
ENST00000693639.1:c.691T>G	ENSP00000510223.1:n.691T>G
ENST00000693646.1:c.604T>G	ENSP00000508449.1:n.604T>G
ENST00000352397.10:c.698T>G MANE Select	ENSP00000338461.6:p.Phe233Cys
ENST00000352397.9:c.698T>G	ENSP00000338461.6:p.Phe233Cys
ENST00000361740.8:c.797T>G	ENSP00000354468.4:p.Phe266Cys
ENST00000402438.5:c.629T>G	ENSP00000385679.1:p.Phe210Cys
ENST00000407332.5:c.629T>G	ENSP00000384457.1:p.Phe210Cys
ENST00000407623.7:c.629T>G	ENSP00000384834.3:p.Phe210Cys
ENST00000470741.1:n.2832T>G
NM_000398.6:c.698T>G	NP_000389.1:p.Phe233Cys
NM_001129819.2:c.629T>G	NP_001123291.1:p.Phe210Cys
NM_001171660.1:c.797T>G	NP_001165131.1:p.Phe266Cys
NM_001171661.1:c.629T>G	NP_001165132.1:p.Phe210Cys
NM_007326.4:c.629T>G	NP_015565.1:p.Phe210Cys
NM_000398.7:c.698T>G MANE Select	NP_000389.1:p.Phe233Cys
NM_001171660.2:c.797T>G	NP_001165131.1:p.Phe266Cys