Canonical Allele Identifier: CA411796411

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019829G>C (hg19) ; chr22:g.42623823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623823G>C , CM000684.2:g.42623823G>C	GRCh38
NC_000022.10:g.43019829G>C , CM000684.1:g.43019829G>C	GRCh37
NC_000022.9:g.41349773G>C	NCBI36
NG_012194.1:g.30577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.831C>G	ENSP00000354468.5:p.Phe277Leu
ENST00000402438.6:c.630C>G	ENSP00000385679.1:p.Phe210Leu
ENST00000407332.6:c.717C>G	ENSP00000384457.2:p.Phe239Leu
ENST00000407623.8:c.630C>G	ENSP00000384834.3:p.Phe210Leu
ENST00000617178.5:c.236C>G
ENST00000684963.1:n.2439C>G
ENST00000685184.1:n.291C>G
ENST00000686523.1:c.*648C>G	ENSP00000508940.1:n.*648C>G
ENST00000687183.1:n.975C>G
ENST00000687198.1:c.630C>G	ENSP00000508492.1:p.Phe210Leu
ENST00000688117.1:c.798C>G	ENSP00000509015.1:p.Phe266Leu
ENST00000688244.1:c.399C>G	ENSP00000510355.1:p.Phe133Leu
ENST00000689001.1:n.1321C>G
ENST00000689195.1:c.615C>G	ENSP00000509895.1:p.Phe205Leu
ENST00000689239.1:n.866C>G
ENST00000689795.1:n.960C>G
ENST00000690835.1:c.*78C>G	ENSP00000509038.1:n.*78C>G
ENST00000690993.1:n.1454C>G
ENST00000691295.1:c.*182C>G	ENSP00000508706.1:n.*182C>G
ENST00000691918.1:c.989C>G	ENSP00000509525.1:n.989C>G
ENST00000692152.1:c.630C>G	ENSP00000509317.1:p.Phe210Leu
ENST00000692344.1:n.1186C>G
ENST00000693363.1:c.741C>G	ENSP00000510411.1:p.Phe247Leu
ENST00000693367.1:c.699C>G	ENSP00000508815.1:p.Phe233Leu
ENST00000693639.1:c.692C>G	ENSP00000510223.1:n.692C>G
ENST00000693646.1:c.605C>G	ENSP00000508449.1:n.605C>G
ENST00000352397.10:c.699C>G MANE Select	ENSP00000338461.6:p.Phe233Leu
ENST00000352397.9:c.699C>G	ENSP00000338461.6:p.Phe233Leu
ENST00000361740.8:c.798C>G	ENSP00000354468.4:p.Phe266Leu
ENST00000402438.5:c.630C>G	ENSP00000385679.1:p.Phe210Leu
ENST00000407332.5:c.630C>G	ENSP00000384457.1:p.Phe210Leu
ENST00000407623.7:c.630C>G	ENSP00000384834.3:p.Phe210Leu
ENST00000470741.1:n.2833C>G
NM_000398.6:c.699C>G	NP_000389.1:p.Phe233Leu
NM_001129819.2:c.630C>G	NP_001123291.1:p.Phe210Leu
NM_001171660.1:c.798C>G	NP_001165131.1:p.Phe266Leu
NM_001171661.1:c.630C>G	NP_001165132.1:p.Phe210Leu
NM_007326.4:c.630C>G	NP_015565.1:p.Phe210Leu
NM_000398.7:c.699C>G MANE Select	NP_000389.1:p.Phe233Leu
NM_001171660.2:c.798C>G	NP_001165131.1:p.Phe266Leu