Canonical Allele Identifier: CA411797753

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 2110561
• ClinVar RCV Id: RCV003042413
• MyVariant Identifiers: chr22:g.43023356T>C (hg19) ; chr22:g.42627350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627350T>C , CM000684.2:g.42627350T>C	GRCh38
NC_000022.10:g.43023356T>C , CM000684.1:g.43023356T>C	GRCh37
NC_000022.9:g.41353300T>C	NCBI36
NG_012194.1:g.27050A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.719A>G	ENSP00000354468.5:p.Lys240Arg
ENST00000402438.6:c.518A>G	ENSP00000385679.1:p.Lys173Arg
ENST00000407332.6:c.605A>G	ENSP00000384457.2:p.Lys202Arg
ENST00000407623.8:c.518A>G	ENSP00000384834.3:p.Lys173Arg
ENST00000617178.5:c.124A>G
ENST00000684963.1:n.2327A>G
ENST00000686523.1:c.*536A>G	ENSP00000508940.1:n.*536A>G
ENST00000687183.1:n.863A>G
ENST00000687198.1:c.518A>G	ENSP00000508492.1:p.Lys173Arg
ENST00000688117.1:c.686A>G	ENSP00000509015.1:p.Lys229Arg
ENST00000688244.1:c.334-3462A>G	ENSP00000510355.1:n.334-3462A>G
ENST00000689001.1:n.1209A>G
ENST00000689195.1:c.503A>G	ENSP00000509895.1:p.Lys168Arg
ENST00000689239.1:n.754A>G
ENST00000689795.1:n.749A>G
ENST00000690835.1:c.587A>G	ENSP00000509038.1:p.Lys196Arg
ENST00000690993.1:n.1342A>G
ENST00000691295.1:c.*70A>G	ENSP00000508706.1:n.*70A>G
ENST00000691918.1:c.566A>G	ENSP00000509525.1:p.Lys189Arg
ENST00000692152.1:c.518A>G	ENSP00000509317.1:p.Lys173Arg
ENST00000692344.1:n.1074A>G
ENST00000693363.1:c.629A>G	ENSP00000510411.1:p.Lys210Arg
ENST00000693367.1:c.587A>G	ENSP00000508815.1:p.Lys196Arg
ENST00000693639.1:c.580A>G	ENSP00000510223.1:n.580A>G
ENST00000693646.1:c.493A>G	ENSP00000508449.1:n.493A>G
ENST00000352397.10:c.587A>G MANE Select	ENSP00000338461.6:p.Lys196Arg
ENST00000352397.9:c.587A>G	ENSP00000338461.6:p.Lys196Arg
ENST00000361740.8:c.686A>G	ENSP00000354468.4:p.Lys229Arg
ENST00000402438.5:c.518A>G	ENSP00000385679.1:p.Lys173Arg
ENST00000407332.5:c.518A>G	ENSP00000384457.1:p.Lys173Arg
ENST00000407623.7:c.518A>G	ENSP00000384834.3:p.Lys173Arg
ENST00000470741.1:n.2721A>G
NM_000398.6:c.587A>G	NP_000389.1:p.Lys196Arg
NM_001129819.2:c.518A>G	NP_001123291.1:p.Lys173Arg
NM_001171660.1:c.686A>G	NP_001165131.1:p.Lys229Arg
NM_001171661.1:c.518A>G	NP_001165132.1:p.Lys173Arg
NM_007326.4:c.518A>G	NP_015565.1:p.Lys173Arg
NM_000398.7:c.587A>G MANE Select	NP_000389.1:p.Lys196Arg
NM_001171660.2:c.686A>G	NP_001165131.1:p.Lys229Arg