Canonical Allele Identifier: CA514812722

Gene: CYB5R3

Linked Data

• dbSNP Id: rs923649139
• gnomAD v2: 22-43019814-C-A
• MyVariant Identifiers: chr22:g.43019814C>A (hg19) ; chr22:g.42623808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623808C>A , CM000684.2:g.42623808C>A	GRCh38
NC_000022.10:g.43019814C>A , CM000684.1:g.43019814C>A	GRCh37
NC_000022.9:g.41349758C>A	NCBI36
NG_012194.1:g.30592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.846G>T	ENSP00000354468.5:p.Thr282=
ENST00000402438.6:c.645G>T	ENSP00000385679.1:p.Thr215=
ENST00000407332.6:c.732G>T	ENSP00000384457.2:p.Thr244=
ENST00000407623.8:c.645G>T	ENSP00000384834.3:p.Thr215=
ENST00000617178.5:c.251G>T
ENST00000684963.1:n.2454G>T
ENST00000685184.1:n.306G>T
ENST00000686523.1:c.*663G>T	ENSP00000508940.1:n.*663G>T
ENST00000687183.1:n.990G>T
ENST00000687198.1:c.645G>T	ENSP00000508492.1:p.Thr215=
ENST00000688117.1:c.813G>T	ENSP00000509015.1:p.Thr271=
ENST00000688244.1:c.414G>T	ENSP00000510355.1:p.Thr138=
ENST00000689001.1:n.1336G>T
ENST00000689195.1:c.630G>T	ENSP00000509895.1:p.Thr210=
ENST00000689239.1:n.881G>T
ENST00000689795.1:n.975G>T
ENST00000690835.1:c.*93G>T	ENSP00000509038.1:n.*93G>T
ENST00000690993.1:n.1469G>T
ENST00000691295.1:c.*197G>T	ENSP00000508706.1:n.*197G>T
ENST00000691918.1:c.1004G>T	ENSP00000509525.1:n.1004G>T
ENST00000692152.1:c.645G>T	ENSP00000509317.1:p.Thr215=
ENST00000692344.1:n.1201G>T
ENST00000693363.1:c.756G>T	ENSP00000510411.1:p.Thr252=
ENST00000693367.1:c.714G>T	ENSP00000508815.1:p.Thr238=
ENST00000693639.1:c.707G>T	ENSP00000510223.1:n.707G>T
ENST00000693646.1:c.620G>T	ENSP00000508449.1:n.620G>T
ENST00000352397.10:c.714G>T MANE Select	ENSP00000338461.6:p.Thr238=
ENST00000352397.9:c.714G>T	ENSP00000338461.6:p.Thr238=
ENST00000361740.8:c.813G>T	ENSP00000354468.4:p.Thr271=
ENST00000402438.5:c.645G>T	ENSP00000385679.1:p.Thr215=
ENST00000407332.5:c.645G>T	ENSP00000384457.1:p.Thr215=
ENST00000407623.7:c.645G>T	ENSP00000384834.3:p.Thr215=
ENST00000470741.1:n.2848G>T
NM_000398.6:c.714G>T	NP_000389.1:p.Thr238=
NM_001129819.2:c.645G>T	NP_001123291.1:p.Thr215=
NM_001171660.1:c.813G>T	NP_001165131.1:p.Thr271=
NM_001171661.1:c.645G>T	NP_001165132.1:p.Thr215=
NM_007326.4:c.645G>T	NP_015565.1:p.Thr215=
NM_000398.7:c.714G>T MANE Select	NP_000389.1:p.Thr238=
NM_001171660.2:c.813G>T	NP_001165131.1:p.Thr271=