Canonical Allele Identifier: CA411800356

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 827634
• ClinVar RCV Id: RCV001027444
• dbSNP Id: rs1299251737
• gnomAD v2: 22-43026911-C-A
• gnomAD v4: 22-42630905-C-A
• MyVariant Identifiers: chr22:g.43026911C>A (hg19) ; chr22:g.42630905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630905C>A , CM000684.2:g.42630905C>A	GRCh38
NC_000022.10:g.43026911C>A , CM000684.1:g.43026911C>A	GRCh37
NC_000022.9:g.41356855C>A	NCBI36
NG_012194.1:g.23495G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.310G>T	ENSP00000354468.5:p.Gly104Cys
ENST00000402438.6:c.241G>T	ENSP00000385679.1:p.Gly81Cys
ENST00000407332.6:c.328G>T	ENSP00000384457.2:p.Gly110Cys
ENST00000407623.8:c.241G>T	ENSP00000384834.3:p.Gly81Cys
ENST00000438270.2:c.241G>T	ENSP00000403439.2:p.Gly81Cys
ENST00000466276.2:n.377G>T
ENST00000686129.1:c.241G>T	ENSP00000508623.1:p.Gly81Cys
ENST00000686523.1:c.*259G>T	ENSP00000508940.1:n.*259G>T
ENST00000687183.1:n.371G>T
ENST00000687198.1:c.241G>T	ENSP00000508492.1:p.Gly81Cys
ENST00000688117.1:c.409G>T	ENSP00000509015.1:p.Gly137Cys
ENST00000688244.1:c.310G>T	ENSP00000510355.1:p.Gly104Cys
ENST00000689001.1:n.717G>T
ENST00000689195.1:c.310G>T	ENSP00000509895.1:p.Gly104Cys
ENST00000689239.1:n.477G>T
ENST00000689795.1:n.472G>T
ENST00000690835.1:c.310G>T	ENSP00000509038.1:p.Gly104Cys
ENST00000690993.1:n.387G>T
ENST00000691295.1:c.310G>T	ENSP00000508706.1:p.Gly104Cys
ENST00000691918.1:c.289G>T	ENSP00000509525.1:p.Gly97Cys
ENST00000692152.1:c.241G>T	ENSP00000509317.1:p.Gly81Cys
ENST00000692344.1:n.334G>T
ENST00000693157.1:c.230G>T	ENSP00000510610.1:n.230G>T
ENST00000693363.1:c.310G>T	ENSP00000510411.1:p.Gly104Cys
ENST00000693367.1:c.310G>T	ENSP00000508815.1:p.Gly104Cys
ENST00000693639.1:c.303G>T	ENSP00000510223.1:p.Arg101Ser
ENST00000693646.1:c.216G>T	ENSP00000508449.1:p.Arg72Ser
ENST00000693716.1:n.538G>T
ENST00000352397.10:c.310G>T MANE Select	ENSP00000338461.6:p.Gly104Cys
ENST00000352397.9:c.310G>T	ENSP00000338461.6:p.Gly104Cys
ENST00000361740.8:c.409G>T	ENSP00000354468.4:p.Gly137Cys
ENST00000402438.5:c.241G>T	ENSP00000385679.1:p.Gly81Cys
ENST00000407332.5:c.241G>T	ENSP00000384457.1:p.Gly81Cys
ENST00000407623.7:c.241G>T	ENSP00000384834.3:p.Gly81Cys
ENST00000438270.1:c.241G>T	ENSP00000403439.1:p.Gly81Cys
ENST00000470741.1:n.2444G>T
NM_000398.6:c.310G>T	NP_000389.1:p.Gly104Cys
NM_001129819.2:c.241G>T	NP_001123291.1:p.Gly81Cys
NM_001171660.1:c.409G>T	NP_001165131.1:p.Gly137Cys
NM_001171661.1:c.241G>T	NP_001165132.1:p.Gly81Cys
NM_007326.4:c.241G>T	NP_015565.1:p.Gly81Cys
NM_000398.7:c.310G>T MANE Select	NP_000389.1:p.Gly104Cys
NM_001171660.2:c.409G>T	NP_001165131.1:p.Gly137Cys