Canonical Allele Identifier: CA411796309

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1258419828
• gnomAD v2: 22-43019806-C-T
• gnomAD v4: 22-42623800-C-T
• MyVariant Identifiers: chr22:g.43019806C>T (hg19) ; chr22:g.42623800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623800C>T , CM000684.2:g.42623800C>T	GRCh38
NC_000022.10:g.43019806C>T , CM000684.1:g.43019806C>T	GRCh37
NC_000022.9:g.41349750C>T	NCBI36
NG_012194.1:g.30600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.854G>A	ENSP00000354468.5:p.Arg285Lys
ENST00000402438.6:c.653G>A	ENSP00000385679.1:p.Arg218Lys
ENST00000407332.6:c.740G>A	ENSP00000384457.2:p.Arg247Lys
ENST00000407623.8:c.653G>A	ENSP00000384834.3:p.Arg218Lys
ENST00000617178.5:c.259G>A
ENST00000684963.1:n.2462G>A
ENST00000685184.1:n.314G>A
ENST00000686523.1:c.*671G>A	ENSP00000508940.1:n.*671G>A
ENST00000687183.1:n.998G>A
ENST00000687198.1:c.653G>A	ENSP00000508492.1:p.Arg218Lys
ENST00000688117.1:c.821G>A	ENSP00000509015.1:p.Arg274Lys
ENST00000688244.1:c.422G>A	ENSP00000510355.1:p.Arg141Lys
ENST00000689001.1:n.1344G>A
ENST00000689195.1:c.638G>A	ENSP00000509895.1:p.Arg213Lys
ENST00000689239.1:n.889G>A
ENST00000689795.1:n.983G>A
ENST00000690835.1:c.*101G>A	ENSP00000509038.1:n.*101G>A
ENST00000690993.1:n.1477G>A
ENST00000691295.1:c.*205G>A	ENSP00000508706.1:n.*205G>A
ENST00000691918.1:c.1012G>A	ENSP00000509525.1:n.1012G>A
ENST00000692152.1:c.653G>A	ENSP00000509317.1:p.Arg218Lys
ENST00000692344.1:n.1209G>A
ENST00000693363.1:c.764G>A	ENSP00000510411.1:p.Arg255Lys
ENST00000693367.1:c.722G>A	ENSP00000508815.1:p.Arg241Lys
ENST00000693639.1:c.715G>A	ENSP00000510223.1:n.715G>A
ENST00000693646.1:c.628G>A	ENSP00000508449.1:n.628G>A
ENST00000352397.10:c.722G>A MANE Select	ENSP00000338461.6:p.Arg241Lys
ENST00000352397.9:c.722G>A	ENSP00000338461.6:p.Arg241Lys
ENST00000361740.8:c.821G>A	ENSP00000354468.4:p.Arg274Lys
ENST00000402438.5:c.653G>A	ENSP00000385679.1:p.Arg218Lys
ENST00000407332.5:c.653G>A	ENSP00000384457.1:p.Arg218Lys
ENST00000407623.7:c.653G>A	ENSP00000384834.3:p.Arg218Lys
ENST00000470741.1:n.2856G>A
NM_000398.6:c.722G>A	NP_000389.1:p.Arg241Lys
NM_001129819.2:c.653G>A	NP_001123291.1:p.Arg218Lys
NM_001171660.1:c.821G>A	NP_001165131.1:p.Arg274Lys
NM_001171661.1:c.653G>A	NP_001165132.1:p.Arg218Lys
NM_007326.4:c.653G>A	NP_015565.1:p.Arg218Lys
NM_000398.7:c.722G>A MANE Select	NP_000389.1:p.Arg241Lys
NM_001171660.2:c.821G>A	NP_001165131.1:p.Arg274Lys