Canonical Allele Identifier: CA411797719

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627342-C-T
• MyVariant Identifiers: chr22:g.43023348C>T (hg19) ; chr22:g.42627342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627342C>T , CM000684.2:g.42627342C>T	GRCh38
NC_000022.10:g.43023348C>T , CM000684.1:g.43023348C>T	GRCh37
NC_000022.9:g.41353292C>T	NCBI36
NG_012194.1:g.27058G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.727G>A	ENSP00000354468.5:p.Asp243Asn
ENST00000402438.6:c.526G>A	ENSP00000385679.1:p.Asp176Asn
ENST00000407332.6:c.613G>A	ENSP00000384457.2:p.Asp205Asn
ENST00000407623.8:c.526G>A	ENSP00000384834.3:p.Asp176Asn
ENST00000617178.5:c.132G>A
ENST00000684963.1:n.2335G>A
ENST00000686523.1:c.*544G>A	ENSP00000508940.1:n.*544G>A
ENST00000687183.1:n.871G>A
ENST00000687198.1:c.526G>A	ENSP00000508492.1:p.Asp176Asn
ENST00000688117.1:c.694G>A	ENSP00000509015.1:p.Asp232Asn
ENST00000688244.1:c.334-3454G>A	ENSP00000510355.1:n.334-3454G>A
ENST00000689001.1:n.1217G>A
ENST00000689195.1:c.511G>A	ENSP00000509895.1:p.Asp171Asn
ENST00000689239.1:n.762G>A
ENST00000689795.1:n.757G>A
ENST00000690835.1:c.595G>A	ENSP00000509038.1:p.Asp199Asn
ENST00000690993.1:n.1350G>A
ENST00000691295.1:c.*78G>A	ENSP00000508706.1:n.*78G>A
ENST00000691918.1:c.574G>A	ENSP00000509525.1:p.Asp192Asn
ENST00000692152.1:c.526G>A	ENSP00000509317.1:p.Asp176Asn
ENST00000692344.1:n.1082G>A
ENST00000693363.1:c.637G>A	ENSP00000510411.1:p.Asp213Asn
ENST00000693367.1:c.595G>A	ENSP00000508815.1:p.Asp199Asn
ENST00000693639.1:c.588G>A	ENSP00000510223.1:n.588G>A
ENST00000693646.1:c.501G>A	ENSP00000508449.1:n.501G>A
ENST00000352397.10:c.595G>A MANE Select	ENSP00000338461.6:p.Asp199Asn
ENST00000352397.9:c.595G>A	ENSP00000338461.6:p.Asp199Asn
ENST00000361740.8:c.694G>A	ENSP00000354468.4:p.Asp232Asn
ENST00000402438.5:c.526G>A	ENSP00000385679.1:p.Asp176Asn
ENST00000407332.5:c.526G>A	ENSP00000384457.1:p.Asp176Asn
ENST00000407623.7:c.526G>A	ENSP00000384834.3:p.Asp176Asn
ENST00000470741.1:n.2729G>A
NM_000398.6:c.595G>A	NP_000389.1:p.Asp199Asn
NM_001129819.2:c.526G>A	NP_001123291.1:p.Asp176Asn
NM_001171660.1:c.694G>A	NP_001165131.1:p.Asp232Asn
NM_001171661.1:c.526G>A	NP_001165132.1:p.Asp176Asn
NM_007326.4:c.526G>A	NP_015565.1:p.Asp176Asn
NM_000398.7:c.595G>A MANE Select	NP_000389.1:p.Asp199Asn
NM_001171660.2:c.694G>A	NP_001165131.1:p.Asp232Asn