Canonical Allele Identifier: CA411796668

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019873G>C (hg19) ; chr22:g.42623867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623867G>C , CM000684.2:g.42623867G>C	GRCh38
NC_000022.10:g.43019873G>C , CM000684.1:g.43019873G>C	GRCh37
NC_000022.9:g.41349817G>C	NCBI36
NG_012194.1:g.30533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.787C>G	ENSP00000354468.5:p.Arg263Gly
ENST00000402438.6:c.586C>G	ENSP00000385679.1:p.Arg196Gly
ENST00000407332.6:c.673C>G	ENSP00000384457.2:p.Arg225Gly
ENST00000407623.8:c.586C>G	ENSP00000384834.3:p.Arg196Gly
ENST00000617178.5:c.192C>G
ENST00000684963.1:n.2395C>G
ENST00000685184.1:n.247C>G
ENST00000686523.1:c.*604C>G	ENSP00000508940.1:n.*604C>G
ENST00000687183.1:n.931C>G
ENST00000687198.1:c.586C>G	ENSP00000508492.1:p.Arg196Gly
ENST00000688117.1:c.754C>G	ENSP00000509015.1:p.Arg252Gly
ENST00000688244.1:c.355C>G	ENSP00000510355.1:p.Arg119Gly
ENST00000689001.1:n.1277C>G
ENST00000689195.1:c.571C>G	ENSP00000509895.1:p.Arg191Gly
ENST00000689239.1:n.822C>G
ENST00000689795.1:n.916C>G
ENST00000690835.1:c.*34C>G	ENSP00000509038.1:n.*34C>G
ENST00000690993.1:n.1410C>G
ENST00000691295.1:c.*138C>G	ENSP00000508706.1:n.*138C>G
ENST00000691918.1:c.945C>G	ENSP00000509525.1:n.945C>G
ENST00000692152.1:c.586C>G	ENSP00000509317.1:p.Arg196Gly
ENST00000692344.1:n.1142C>G
ENST00000693363.1:c.697C>G	ENSP00000510411.1:p.Arg233Gly
ENST00000693367.1:c.655C>G	ENSP00000508815.1:p.Arg219Gly
ENST00000693639.1:c.648C>G	ENSP00000510223.1:n.648C>G
ENST00000693646.1:c.561C>G	ENSP00000508449.1:n.561C>G
ENST00000352397.10:c.655C>G MANE Select	ENSP00000338461.6:p.Arg219Gly
ENST00000352397.9:c.655C>G	ENSP00000338461.6:p.Arg219Gly
ENST00000361740.8:c.754C>G	ENSP00000354468.4:p.Arg252Gly
ENST00000402438.5:c.586C>G	ENSP00000385679.1:p.Arg196Gly
ENST00000407332.5:c.586C>G	ENSP00000384457.1:p.Arg196Gly
ENST00000407623.7:c.586C>G	ENSP00000384834.3:p.Arg196Gly
ENST00000470741.1:n.2789C>G
NM_000398.6:c.655C>G	NP_000389.1:p.Arg219Gly
NM_001129819.2:c.586C>G	NP_001123291.1:p.Arg196Gly
NM_001171660.1:c.754C>G	NP_001165131.1:p.Arg252Gly
NM_001171661.1:c.586C>G	NP_001165132.1:p.Arg196Gly
NM_007326.4:c.586C>G	NP_015565.1:p.Arg196Gly
NM_000398.7:c.655C>G MANE Select	NP_000389.1:p.Arg219Gly
NM_001171660.2:c.754C>G	NP_001165131.1:p.Arg252Gly