Canonical Allele Identifier: CA411796592

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019860T>C (hg19) ; chr22:g.42623854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623854T>C , CM000684.2:g.42623854T>C	GRCh38
NC_000022.10:g.43019860T>C , CM000684.1:g.43019860T>C	GRCh37
NC_000022.9:g.41349804T>C	NCBI36
NG_012194.1:g.30546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.800A>G	ENSP00000354468.5:p.Glu267Gly
ENST00000402438.6:c.599A>G	ENSP00000385679.1:p.Glu200Gly
ENST00000407332.6:c.686A>G	ENSP00000384457.2:p.Glu229Gly
ENST00000407623.8:c.599A>G	ENSP00000384834.3:p.Glu200Gly
ENST00000617178.5:c.205A>G
ENST00000684963.1:n.2408A>G
ENST00000685184.1:n.260A>G
ENST00000686523.1:c.*617A>G	ENSP00000508940.1:n.*617A>G
ENST00000687183.1:n.944A>G
ENST00000687198.1:c.599A>G	ENSP00000508492.1:p.Glu200Gly
ENST00000688117.1:c.767A>G	ENSP00000509015.1:p.Glu256Gly
ENST00000688244.1:c.368A>G	ENSP00000510355.1:p.Glu123Gly
ENST00000689001.1:n.1290A>G
ENST00000689195.1:c.584A>G	ENSP00000509895.1:p.Glu195Gly
ENST00000689239.1:n.835A>G
ENST00000689795.1:n.929A>G
ENST00000690835.1:c.*47A>G	ENSP00000509038.1:n.*47A>G
ENST00000690993.1:n.1423A>G
ENST00000691295.1:c.*151A>G	ENSP00000508706.1:n.*151A>G
ENST00000691918.1:c.958A>G	ENSP00000509525.1:n.958A>G
ENST00000692152.1:c.599A>G	ENSP00000509317.1:p.Glu200Gly
ENST00000692344.1:n.1155A>G
ENST00000693363.1:c.710A>G	ENSP00000510411.1:p.Glu237Gly
ENST00000693367.1:c.668A>G	ENSP00000508815.1:p.Glu223Gly
ENST00000693639.1:c.661A>G	ENSP00000510223.1:n.661A>G
ENST00000693646.1:c.574A>G	ENSP00000508449.1:n.574A>G
ENST00000352397.10:c.668A>G MANE Select	ENSP00000338461.6:p.Glu223Gly
ENST00000352397.9:c.668A>G	ENSP00000338461.6:p.Glu223Gly
ENST00000361740.8:c.767A>G	ENSP00000354468.4:p.Glu256Gly
ENST00000402438.5:c.599A>G	ENSP00000385679.1:p.Glu200Gly
ENST00000407332.5:c.599A>G	ENSP00000384457.1:p.Glu200Gly
ENST00000407623.7:c.599A>G	ENSP00000384834.3:p.Glu200Gly
ENST00000470741.1:n.2802A>G
NM_000398.6:c.668A>G	NP_000389.1:p.Glu223Gly
NM_001129819.2:c.599A>G	NP_001123291.1:p.Glu200Gly
NM_001171660.1:c.767A>G	NP_001165131.1:p.Glu256Gly
NM_001171661.1:c.599A>G	NP_001165132.1:p.Glu200Gly
NM_007326.4:c.599A>G	NP_015565.1:p.Glu200Gly
NM_000398.7:c.668A>G MANE Select	NP_000389.1:p.Glu223Gly
NM_001171660.2:c.767A>G	NP_001165131.1:p.Glu256Gly