Canonical Allele Identifier: CA10269829

Gene: CYB5R3

Linked Data

• dbSNP Id: rs778184723
• ExAC: 22:43026909 G / A
• gnomAD v2: 22-43026909-G-A
• gnomAD v3: 22-42630903-G-A
• gnomAD v4: 22-42630903-G-A
• MyVariant Identifiers: chr22:g.43026909G>A (hg19) ; chr22:g.42630903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630903G>A , CM000684.2:g.42630903G>A	GRCh38
NC_000022.10:g.43026909G>A , CM000684.1:g.43026909G>A	GRCh37
NC_000022.9:g.41356853G>A	NCBI36
NG_012194.1:g.23497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.312C>T	ENSP00000354468.5:p.Gly104=
ENST00000402438.6:c.243C>T	ENSP00000385679.1:p.Gly81=
ENST00000407332.6:c.330C>T	ENSP00000384457.2:p.Gly110=
ENST00000407623.8:c.243C>T	ENSP00000384834.3:p.Gly81=
ENST00000438270.2:c.243C>T	ENSP00000403439.2:p.Gly81=
ENST00000466276.2:n.379C>T
ENST00000686129.1:c.243C>T	ENSP00000508623.1:p.Gly81=
ENST00000686523.1:c.*261C>T	ENSP00000508940.1:n.*261C>T
ENST00000687183.1:n.373C>T
ENST00000687198.1:c.243C>T	ENSP00000508492.1:p.Gly81=
ENST00000688117.1:c.411C>T	ENSP00000509015.1:p.Gly137=
ENST00000688244.1:c.312C>T	ENSP00000510355.1:p.Gly104=
ENST00000689001.1:n.719C>T
ENST00000689195.1:c.312C>T	ENSP00000509895.1:p.Gly104=
ENST00000689239.1:n.479C>T
ENST00000689795.1:n.474C>T
ENST00000690835.1:c.312C>T	ENSP00000509038.1:p.Gly104=
ENST00000690993.1:n.389C>T
ENST00000691295.1:c.312C>T	ENSP00000508706.1:p.Gly104=
ENST00000691918.1:c.291C>T	ENSP00000509525.1:p.Gly97=
ENST00000692152.1:c.243C>T	ENSP00000509317.1:p.Gly81=
ENST00000692344.1:n.336C>T
ENST00000693157.1:c.232C>T	ENSP00000510610.1:n.232C>T
ENST00000693363.1:c.312C>T	ENSP00000510411.1:p.Gly104=
ENST00000693367.1:c.312C>T	ENSP00000508815.1:p.Gly104=
ENST00000693639.1:c.305C>T	ENSP00000510223.1:p.Ala102Val
ENST00000693646.1:c.218C>T	ENSP00000508449.1:p.Ala73Val
ENST00000693716.1:n.540C>T
ENST00000352397.10:c.312C>T MANE Select	ENSP00000338461.6:p.Gly104=
ENST00000352397.9:c.312C>T	ENSP00000338461.6:p.Gly104=
ENST00000361740.8:c.411C>T	ENSP00000354468.4:p.Gly137=
ENST00000402438.5:c.243C>T	ENSP00000385679.1:p.Gly81=
ENST00000407332.5:c.243C>T	ENSP00000384457.1:p.Gly81=
ENST00000407623.7:c.243C>T	ENSP00000384834.3:p.Gly81=
ENST00000438270.1:c.243C>T	ENSP00000403439.1:p.Gly81=
ENST00000470741.1:n.2446C>T
NM_000398.6:c.312C>T	NP_000389.1:p.Gly104=
NM_001129819.2:c.243C>T	NP_001123291.1:p.Gly81=
NM_001171660.1:c.411C>T	NP_001165131.1:p.Gly137=
NM_001171661.1:c.243C>T	NP_001165132.1:p.Gly81=
NM_007326.4:c.243C>T	NP_015565.1:p.Gly81=
NM_000398.7:c.312C>T MANE Select	NP_000389.1:p.Gly104=
NM_001171660.2:c.411C>T	NP_001165131.1:p.Gly137=