Canonical Allele Identifier: CA324695814

Gene: CYB5R3

Linked Data

• dbSNP Id: rs757194999
• gnomAD v2: 22-43019847-G-T
• gnomAD v4: 22-42623841-G-T
• COSMIC: COSM6252381 ; COSM6252382
• MyVariant Identifiers: chr22:g.43019847G>T (hg19) ; chr22:g.42623841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623841G>T , CM000684.2:g.42623841G>T	GRCh38
NC_000022.10:g.43019847G>T , CM000684.1:g.43019847G>T	GRCh37
NC_000022.9:g.41349791G>T	NCBI36
NG_012194.1:g.30559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.813C>A	ENSP00000354468.5:p.Asn271Lys
ENST00000402438.6:c.612C>A	ENSP00000385679.1:p.Asn204Lys
ENST00000407332.6:c.699C>A	ENSP00000384457.2:p.Asn233Lys
ENST00000407623.8:c.612C>A	ENSP00000384834.3:p.Asn204Lys
ENST00000617178.5:c.218C>A
ENST00000684963.1:n.2421C>A
ENST00000685184.1:n.273C>A
ENST00000686523.1:c.*630C>A	ENSP00000508940.1:n.*630C>A
ENST00000687183.1:n.957C>A
ENST00000687198.1:c.612C>A	ENSP00000508492.1:p.Asn204Lys
ENST00000688117.1:c.780C>A	ENSP00000509015.1:p.Asn260Lys
ENST00000688244.1:c.381C>A	ENSP00000510355.1:p.Asn127Lys
ENST00000689001.1:n.1303C>A
ENST00000689195.1:c.597C>A	ENSP00000509895.1:p.Asn199Lys
ENST00000689239.1:n.848C>A
ENST00000689795.1:n.942C>A
ENST00000690835.1:c.*60C>A	ENSP00000509038.1:n.*60C>A
ENST00000690993.1:n.1436C>A
ENST00000691295.1:c.*164C>A	ENSP00000508706.1:n.*164C>A
ENST00000691918.1:c.971C>A	ENSP00000509525.1:n.971C>A
ENST00000692152.1:c.612C>A	ENSP00000509317.1:p.Asn204Lys
ENST00000692344.1:n.1168C>A
ENST00000693363.1:c.723C>A	ENSP00000510411.1:p.Asn241Lys
ENST00000693367.1:c.681C>A	ENSP00000508815.1:p.Asn227Lys
ENST00000693639.1:c.674C>A	ENSP00000510223.1:n.674C>A
ENST00000693646.1:c.587C>A	ENSP00000508449.1:n.587C>A
ENST00000352397.10:c.681C>A MANE Select	ENSP00000338461.6:p.Asn227Lys
ENST00000352397.9:c.681C>A	ENSP00000338461.6:p.Asn227Lys
ENST00000361740.8:c.780C>A	ENSP00000354468.4:p.Asn260Lys
ENST00000402438.5:c.612C>A	ENSP00000385679.1:p.Asn204Lys
ENST00000407332.5:c.612C>A	ENSP00000384457.1:p.Asn204Lys
ENST00000407623.7:c.612C>A	ENSP00000384834.3:p.Asn204Lys
ENST00000470741.1:n.2815C>A
NM_000398.6:c.681C>A	NP_000389.1:p.Asn227Lys
NM_001129819.2:c.612C>A	NP_001123291.1:p.Asn204Lys
NM_001171660.1:c.780C>A	NP_001165131.1:p.Asn260Lys
NM_001171661.1:c.612C>A	NP_001165132.1:p.Asn204Lys
NM_007326.4:c.612C>A	NP_015565.1:p.Asn204Lys
NM_000398.7:c.681C>A MANE Select	NP_000389.1:p.Asn227Lys
NM_001171660.2:c.780C>A	NP_001165131.1:p.Asn260Lys