Canonical Allele Identifier: CA411797745

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023354C>T (hg19) ; chr22:g.42627348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627348C>T , CM000684.2:g.42627348C>T	GRCh38
NC_000022.10:g.43023354C>T , CM000684.1:g.43023354C>T	GRCh37
NC_000022.9:g.41353298C>T	NCBI36
NG_012194.1:g.27052G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.721G>A	ENSP00000354468.5:p.Asp241Asn
ENST00000402438.6:c.520G>A	ENSP00000385679.1:p.Asp174Asn
ENST00000407332.6:c.607G>A	ENSP00000384457.2:p.Asp203Asn
ENST00000407623.8:c.520G>A	ENSP00000384834.3:p.Asp174Asn
ENST00000617178.5:c.126G>A
ENST00000684963.1:n.2329G>A
ENST00000686523.1:c.*538G>A	ENSP00000508940.1:n.*538G>A
ENST00000687183.1:n.865G>A
ENST00000687198.1:c.520G>A	ENSP00000508492.1:p.Asp174Asn
ENST00000688117.1:c.688G>A	ENSP00000509015.1:p.Asp230Asn
ENST00000688244.1:c.334-3460G>A	ENSP00000510355.1:n.334-3460G>A
ENST00000689001.1:n.1211G>A
ENST00000689195.1:c.505G>A	ENSP00000509895.1:p.Asp169Asn
ENST00000689239.1:n.756G>A
ENST00000689795.1:n.751G>A
ENST00000690835.1:c.589G>A	ENSP00000509038.1:p.Asp197Asn
ENST00000690993.1:n.1344G>A
ENST00000691295.1:c.*72G>A	ENSP00000508706.1:n.*72G>A
ENST00000691918.1:c.568G>A	ENSP00000509525.1:p.Asp190Asn
ENST00000692152.1:c.520G>A	ENSP00000509317.1:p.Asp174Asn
ENST00000692344.1:n.1076G>A
ENST00000693363.1:c.631G>A	ENSP00000510411.1:p.Asp211Asn
ENST00000693367.1:c.589G>A	ENSP00000508815.1:p.Asp197Asn
ENST00000693639.1:c.582G>A	ENSP00000510223.1:n.582G>A
ENST00000693646.1:c.495G>A	ENSP00000508449.1:n.495G>A
ENST00000352397.10:c.589G>A MANE Select	ENSP00000338461.6:p.Asp197Asn
ENST00000352397.9:c.589G>A	ENSP00000338461.6:p.Asp197Asn
ENST00000361740.8:c.688G>A	ENSP00000354468.4:p.Asp230Asn
ENST00000402438.5:c.520G>A	ENSP00000385679.1:p.Asp174Asn
ENST00000407332.5:c.520G>A	ENSP00000384457.1:p.Asp174Asn
ENST00000407623.7:c.520G>A	ENSP00000384834.3:p.Asp174Asn
ENST00000470741.1:n.2723G>A
NM_000398.6:c.589G>A	NP_000389.1:p.Asp197Asn
NM_001129819.2:c.520G>A	NP_001123291.1:p.Asp174Asn
NM_001171660.1:c.688G>A	NP_001165131.1:p.Asp230Asn
NM_001171661.1:c.520G>A	NP_001165132.1:p.Asp174Asn
NM_007326.4:c.520G>A	NP_015565.1:p.Asp174Asn
NM_000398.7:c.589G>A MANE Select	NP_000389.1:p.Asp197Asn
NM_001171660.2:c.688G>A	NP_001165131.1:p.Asp230Asn