Canonical Allele Identifier: CA411797747

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627349-C-G
• MyVariant Identifiers: chr22:g.43023355C>G (hg19) ; chr22:g.42627349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627349C>G , CM000684.2:g.42627349C>G	GRCh38
NC_000022.10:g.43023355C>G , CM000684.1:g.43023355C>G	GRCh37
NC_000022.9:g.41353299C>G	NCBI36
NG_012194.1:g.27051G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.720G>C	ENSP00000354468.5:p.Lys240Asn
ENST00000402438.6:c.519G>C	ENSP00000385679.1:p.Lys173Asn
ENST00000407332.6:c.606G>C	ENSP00000384457.2:p.Lys202Asn
ENST00000407623.8:c.519G>C	ENSP00000384834.3:p.Lys173Asn
ENST00000617178.5:c.125G>C
ENST00000684963.1:n.2328G>C
ENST00000686523.1:c.*537G>C	ENSP00000508940.1:n.*537G>C
ENST00000687183.1:n.864G>C
ENST00000687198.1:c.519G>C	ENSP00000508492.1:p.Lys173Asn
ENST00000688117.1:c.687G>C	ENSP00000509015.1:p.Lys229Asn
ENST00000688244.1:c.334-3461G>C	ENSP00000510355.1:n.334-3461G>C
ENST00000689001.1:n.1210G>C
ENST00000689195.1:c.504G>C	ENSP00000509895.1:p.Lys168Asn
ENST00000689239.1:n.755G>C
ENST00000689795.1:n.750G>C
ENST00000690835.1:c.588G>C	ENSP00000509038.1:p.Lys196Asn
ENST00000690993.1:n.1343G>C
ENST00000691295.1:c.*71G>C	ENSP00000508706.1:n.*71G>C
ENST00000691918.1:c.567G>C	ENSP00000509525.1:p.Lys189Asn
ENST00000692152.1:c.519G>C	ENSP00000509317.1:p.Lys173Asn
ENST00000692344.1:n.1075G>C
ENST00000693363.1:c.630G>C	ENSP00000510411.1:p.Lys210Asn
ENST00000693367.1:c.588G>C	ENSP00000508815.1:p.Lys196Asn
ENST00000693639.1:c.581G>C	ENSP00000510223.1:n.581G>C
ENST00000693646.1:c.494G>C	ENSP00000508449.1:n.494G>C
ENST00000352397.10:c.588G>C MANE Select	ENSP00000338461.6:p.Lys196Asn
ENST00000352397.9:c.588G>C	ENSP00000338461.6:p.Lys196Asn
ENST00000361740.8:c.687G>C	ENSP00000354468.4:p.Lys229Asn
ENST00000402438.5:c.519G>C	ENSP00000385679.1:p.Lys173Asn
ENST00000407332.5:c.519G>C	ENSP00000384457.1:p.Lys173Asn
ENST00000407623.7:c.519G>C	ENSP00000384834.3:p.Lys173Asn
ENST00000470741.1:n.2722G>C
NM_000398.6:c.588G>C	NP_000389.1:p.Lys196Asn
NM_001129819.2:c.519G>C	NP_001123291.1:p.Lys173Asn
NM_001171660.1:c.687G>C	NP_001165131.1:p.Lys229Asn
NM_001171661.1:c.519G>C	NP_001165132.1:p.Lys173Asn
NM_007326.4:c.519G>C	NP_015565.1:p.Lys173Asn
NM_000398.7:c.588G>C MANE Select	NP_000389.1:p.Lys196Asn
NM_001171660.2:c.687G>C	NP_001165131.1:p.Lys229Asn