Canonical Allele Identifier: CA10269616

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 1608651
• ClinVar RCV Id: RCV002162980 ; RCV003485764
• dbSNP Id: rs61745147
• ExAC: 22:43019891 C / T
• gnomAD v2: 22-43019891-C-T
• gnomAD v3: 22-42623885-C-T
• gnomAD v4: 22-42623885-C-T
• MyVariant Identifiers: chr22:g.43019891C>T (hg19) ; chr22:g.42623885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623885C>T , CM000684.2:g.42623885C>T	GRCh38
NC_000022.10:g.43019891C>T , CM000684.1:g.43019891C>T	GRCh37
NC_000022.9:g.41349835C>T	NCBI36
NG_012194.1:g.30515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.769G>A	ENSP00000354468.5:p.Glu257Lys
ENST00000402438.6:c.568G>A	ENSP00000385679.1:p.Glu190Lys
ENST00000407332.6:c.655G>A	ENSP00000384457.2:p.Glu219Lys
ENST00000407623.8:c.568G>A	ENSP00000384834.3:p.Glu190Lys
ENST00000617178.5:c.174G>A
ENST00000684963.1:n.2377G>A
ENST00000685184.1:n.229G>A
ENST00000686523.1:c.*586G>A	ENSP00000508940.1:n.*586G>A
ENST00000687183.1:n.913G>A
ENST00000687198.1:c.568G>A	ENSP00000508492.1:p.Glu190Lys
ENST00000688117.1:c.736G>A	ENSP00000509015.1:p.Glu246Lys
ENST00000688244.1:c.337G>A	ENSP00000510355.1:p.Glu113Lys
ENST00000689001.1:n.1259G>A
ENST00000689195.1:c.553G>A	ENSP00000509895.1:p.Glu185Lys
ENST00000689239.1:n.804G>A
ENST00000689795.1:n.898G>A
ENST00000690835.1:c.*16G>A	ENSP00000509038.1:n.*16G>A
ENST00000690993.1:n.1392G>A
ENST00000691295.1:c.*120G>A	ENSP00000508706.1:n.*120G>A
ENST00000691918.1:c.927G>A	ENSP00000509525.1:n.927G>A
ENST00000692152.1:c.568G>A	ENSP00000509317.1:p.Glu190Lys
ENST00000692344.1:n.1124G>A
ENST00000693363.1:c.679G>A	ENSP00000510411.1:p.Glu227Lys
ENST00000693367.1:c.637G>A	ENSP00000508815.1:p.Glu213Lys
ENST00000693639.1:c.630G>A	ENSP00000510223.1:n.630G>A
ENST00000693646.1:c.543G>A	ENSP00000508449.1:n.543G>A
ENST00000352397.10:c.637G>A MANE Select	ENSP00000338461.6:p.Glu213Lys
ENST00000352397.9:c.637G>A	ENSP00000338461.6:p.Glu213Lys
ENST00000361740.8:c.736G>A	ENSP00000354468.4:p.Glu246Lys
ENST00000402438.5:c.568G>A	ENSP00000385679.1:p.Glu190Lys
ENST00000407332.5:c.568G>A	ENSP00000384457.1:p.Glu190Lys
ENST00000407623.7:c.568G>A	ENSP00000384834.3:p.Glu190Lys
ENST00000470741.1:n.2771G>A
NM_000398.6:c.637G>A	NP_000389.1:p.Glu213Lys
NM_001129819.2:c.568G>A	NP_001123291.1:p.Glu190Lys
NM_001171660.1:c.736G>A	NP_001165131.1:p.Glu246Lys
NM_001171661.1:c.568G>A	NP_001165132.1:p.Glu190Lys
NM_007326.4:c.568G>A	NP_015565.1:p.Glu190Lys
NM_000398.7:c.637G>A MANE Select	NP_000389.1:p.Glu213Lys
NM_001171660.2:c.736G>A	NP_001165131.1:p.Glu246Lys