Canonical Allele Identifier: CA10269775

Gene: CYB5R3

Linked Data

• dbSNP Id: rs776884673
• ExAC: 22:43024223 C / T
• gnomAD v2: 22-43024223-C-T
• gnomAD v4: 22-42628217-C-T
• MyVariant Identifiers: chr22:g.43024223C>T (hg19) ; chr22:g.42628217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628217C>T , CM000684.2:g.42628217C>T	GRCh38
NC_000022.10:g.43024223C>T , CM000684.1:g.43024223C>T	GRCh37
NC_000022.9:g.41354167C>T	NCBI36
NG_012194.1:g.26183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.398G>A	ENSP00000354468.5:p.Ser133Asn
ENST00000402438.6:c.329G>A	ENSP00000385679.1:p.Ser110Asn
ENST00000407332.6:c.416G>A	ENSP00000384457.2:p.Ser139Asn
ENST00000407623.8:c.329G>A	ENSP00000384834.3:p.Ser110Asn
ENST00000438270.2:c.329G>A	ENSP00000403439.2:p.Ser110Asn
ENST00000684963.1:n.1675G>A
ENST00000686129.1:c.329G>A	ENSP00000508623.1:p.Ser110Asn
ENST00000686523.1:c.*347G>A	ENSP00000508940.1:n.*347G>A
ENST00000687183.1:n.459G>A
ENST00000687198.1:c.329G>A	ENSP00000508492.1:p.Ser110Asn
ENST00000688117.1:c.497G>A	ENSP00000509015.1:p.Ser166Asn
ENST00000688244.1:c.333+2665G>A	ENSP00000510355.1:n.333+2665G>A
ENST00000689001.1:n.805G>A
ENST00000689195.1:c.398G>A	ENSP00000509895.1:p.Ser133Asn
ENST00000689239.1:n.565G>A
ENST00000689795.1:n.560G>A
ENST00000690835.1:c.398G>A	ENSP00000509038.1:p.Ser133Asn
ENST00000690993.1:n.475G>A
ENST00000691295.1:c.334-529G>A	ENSP00000508706.1:n.334-529G>A
ENST00000691918.1:c.377G>A	ENSP00000509525.1:p.Ser126Asn
ENST00000692152.1:c.329G>A	ENSP00000509317.1:p.Ser110Asn
ENST00000692344.1:n.422G>A
ENST00000693157.1:c.318G>A	ENSP00000510610.1:n.318G>A
ENST00000693363.1:c.398G>A	ENSP00000510411.1:p.Ser133Asn
ENST00000693367.1:c.398G>A	ENSP00000508815.1:p.Ser133Asn
ENST00000693639.1:c.391G>A	ENSP00000510223.1:p.Ala131Thr
ENST00000693646.1:c.304G>A	ENSP00000508449.1:p.Ala102Thr
ENST00000352397.10:c.398G>A MANE Select	ENSP00000338461.6:p.Ser133Asn
ENST00000352397.9:c.398G>A	ENSP00000338461.6:p.Ser133Asn
ENST00000361740.8:c.497G>A	ENSP00000354468.4:p.Ser166Asn
ENST00000402438.5:c.329G>A	ENSP00000385679.1:p.Ser110Asn
ENST00000407332.5:c.329G>A	ENSP00000384457.1:p.Ser110Asn
ENST00000407623.7:c.329G>A	ENSP00000384834.3:p.Ser110Asn
ENST00000438270.1:c.329G>A	ENSP00000403439.1:p.Ser110Asn
ENST00000470741.1:n.2532G>A
NM_000398.6:c.398G>A	NP_000389.1:p.Ser133Asn
NM_001129819.2:c.329G>A	NP_001123291.1:p.Ser110Asn
NM_001171660.1:c.497G>A	NP_001165131.1:p.Ser166Asn
NM_001171661.1:c.329G>A	NP_001165132.1:p.Ser110Asn
NM_007326.4:c.329G>A	NP_015565.1:p.Ser110Asn
NM_000398.7:c.398G>A MANE Select	NP_000389.1:p.Ser133Asn
NM_001171660.2:c.497G>A	NP_001165131.1:p.Ser166Asn