Canonical Allele Identifier: CA411796534

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019851C>T (hg19) ; chr22:g.42623845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623845C>T , CM000684.2:g.42623845C>T	GRCh38
NC_000022.10:g.43019851C>T , CM000684.1:g.43019851C>T	GRCh37
NC_000022.9:g.41349795C>T	NCBI36
NG_012194.1:g.30555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.809G>A	ENSP00000354468.5:p.Arg270Lys
ENST00000402438.6:c.608G>A	ENSP00000385679.1:p.Arg203Lys
ENST00000407332.6:c.695G>A	ENSP00000384457.2:p.Arg232Lys
ENST00000407623.8:c.608G>A	ENSP00000384834.3:p.Arg203Lys
ENST00000617178.5:c.214G>A
ENST00000684963.1:n.2417G>A
ENST00000685184.1:n.269G>A
ENST00000686523.1:c.*626G>A	ENSP00000508940.1:n.*626G>A
ENST00000687183.1:n.953G>A
ENST00000687198.1:c.608G>A	ENSP00000508492.1:p.Arg203Lys
ENST00000688117.1:c.776G>A	ENSP00000509015.1:p.Arg259Lys
ENST00000688244.1:c.377G>A	ENSP00000510355.1:p.Arg126Lys
ENST00000689001.1:n.1299G>A
ENST00000689195.1:c.593G>A	ENSP00000509895.1:p.Arg198Lys
ENST00000689239.1:n.844G>A
ENST00000689795.1:n.938G>A
ENST00000690835.1:c.*56G>A	ENSP00000509038.1:n.*56G>A
ENST00000690993.1:n.1432G>A
ENST00000691295.1:c.*160G>A	ENSP00000508706.1:n.*160G>A
ENST00000691918.1:c.967G>A	ENSP00000509525.1:n.967G>A
ENST00000692152.1:c.608G>A	ENSP00000509317.1:p.Arg203Lys
ENST00000692344.1:n.1164G>A
ENST00000693363.1:c.719G>A	ENSP00000510411.1:p.Arg240Lys
ENST00000693367.1:c.677G>A	ENSP00000508815.1:p.Arg226Lys
ENST00000693639.1:c.670G>A	ENSP00000510223.1:n.670G>A
ENST00000693646.1:c.583G>A	ENSP00000508449.1:n.583G>A
ENST00000352397.10:c.677G>A MANE Select	ENSP00000338461.6:p.Arg226Lys
ENST00000352397.9:c.677G>A	ENSP00000338461.6:p.Arg226Lys
ENST00000361740.8:c.776G>A	ENSP00000354468.4:p.Arg259Lys
ENST00000402438.5:c.608G>A	ENSP00000385679.1:p.Arg203Lys
ENST00000407332.5:c.608G>A	ENSP00000384457.1:p.Arg203Lys
ENST00000407623.7:c.608G>A	ENSP00000384834.3:p.Arg203Lys
ENST00000470741.1:n.2811G>A
NM_000398.6:c.677G>A	NP_000389.1:p.Arg226Lys
NM_001129819.2:c.608G>A	NP_001123291.1:p.Arg203Lys
NM_001171660.1:c.776G>A	NP_001165131.1:p.Arg259Lys
NM_001171661.1:c.608G>A	NP_001165132.1:p.Arg203Lys
NM_007326.4:c.608G>A	NP_015565.1:p.Arg203Lys
NM_000398.7:c.677G>A MANE Select	NP_000389.1:p.Arg226Lys
NM_001171660.2:c.776G>A	NP_001165131.1:p.Arg259Lys