Canonical Allele Identifier: CA411796600

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1395236707
• gnomAD v2: 22-43019861-C-T
• gnomAD v4: 22-42623855-C-T
• MyVariant Identifiers: chr22:g.43019861C>T (hg19) ; chr22:g.42623855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623855C>T , CM000684.2:g.42623855C>T	GRCh38
NC_000022.10:g.43019861C>T , CM000684.1:g.43019861C>T	GRCh37
NC_000022.9:g.41349805C>T	NCBI36
NG_012194.1:g.30545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.799G>A	ENSP00000354468.5:p.Glu267Lys
ENST00000402438.6:c.598G>A	ENSP00000385679.1:p.Glu200Lys
ENST00000407332.6:c.685G>A	ENSP00000384457.2:p.Glu229Lys
ENST00000407623.8:c.598G>A	ENSP00000384834.3:p.Glu200Lys
ENST00000617178.5:c.204G>A
ENST00000684963.1:n.2407G>A
ENST00000685184.1:n.259G>A
ENST00000686523.1:c.*616G>A	ENSP00000508940.1:n.*616G>A
ENST00000687183.1:n.943G>A
ENST00000687198.1:c.598G>A	ENSP00000508492.1:p.Glu200Lys
ENST00000688117.1:c.766G>A	ENSP00000509015.1:p.Glu256Lys
ENST00000688244.1:c.367G>A	ENSP00000510355.1:p.Glu123Lys
ENST00000689001.1:n.1289G>A
ENST00000689195.1:c.583G>A	ENSP00000509895.1:p.Glu195Lys
ENST00000689239.1:n.834G>A
ENST00000689795.1:n.928G>A
ENST00000690835.1:c.*46G>A	ENSP00000509038.1:n.*46G>A
ENST00000690993.1:n.1422G>A
ENST00000691295.1:c.*150G>A	ENSP00000508706.1:n.*150G>A
ENST00000691918.1:c.957G>A	ENSP00000509525.1:n.957G>A
ENST00000692152.1:c.598G>A	ENSP00000509317.1:p.Glu200Lys
ENST00000692344.1:n.1154G>A
ENST00000693363.1:c.709G>A	ENSP00000510411.1:p.Glu237Lys
ENST00000693367.1:c.667G>A	ENSP00000508815.1:p.Glu223Lys
ENST00000693639.1:c.660G>A	ENSP00000510223.1:n.660G>A
ENST00000693646.1:c.573G>A	ENSP00000508449.1:n.573G>A
ENST00000352397.10:c.667G>A MANE Select	ENSP00000338461.6:p.Glu223Lys
ENST00000352397.9:c.667G>A	ENSP00000338461.6:p.Glu223Lys
ENST00000361740.8:c.766G>A	ENSP00000354468.4:p.Glu256Lys
ENST00000402438.5:c.598G>A	ENSP00000385679.1:p.Glu200Lys
ENST00000407332.5:c.598G>A	ENSP00000384457.1:p.Glu200Lys
ENST00000407623.7:c.598G>A	ENSP00000384834.3:p.Glu200Lys
ENST00000470741.1:n.2801G>A
NM_000398.6:c.667G>A	NP_000389.1:p.Glu223Lys
NM_001129819.2:c.598G>A	NP_001123291.1:p.Glu200Lys
NM_001171660.1:c.766G>A	NP_001165131.1:p.Glu256Lys
NM_001171661.1:c.598G>A	NP_001165132.1:p.Glu200Lys
NM_007326.4:c.598G>A	NP_015565.1:p.Glu200Lys
NM_000398.7:c.667G>A MANE Select	NP_000389.1:p.Glu223Lys
NM_001171660.2:c.766G>A	NP_001165131.1:p.Glu256Lys