Canonical Allele Identifier: CA411796304

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019805T>G (hg19) ; chr22:g.42623799T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623799T>G , CM000684.2:g.42623799T>G	GRCh38
NC_000022.10:g.43019805T>G , CM000684.1:g.43019805T>G	GRCh37
NC_000022.9:g.41349749T>G	NCBI36
NG_012194.1:g.30601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.855A>C	ENSP00000354468.5:p.Arg285Ser
ENST00000402438.6:c.654A>C	ENSP00000385679.1:p.Arg218Ser
ENST00000407332.6:c.741A>C	ENSP00000384457.2:p.Arg247Ser
ENST00000407623.8:c.654A>C	ENSP00000384834.3:p.Arg218Ser
ENST00000617178.5:c.260A>C
ENST00000684963.1:n.2463A>C
ENST00000685184.1:n.315A>C
ENST00000686523.1:c.*672A>C	ENSP00000508940.1:n.*672A>C
ENST00000687183.1:n.999A>C
ENST00000687198.1:c.654A>C	ENSP00000508492.1:p.Arg218Ser
ENST00000688117.1:c.822A>C	ENSP00000509015.1:p.Arg274Ser
ENST00000688244.1:c.423A>C	ENSP00000510355.1:p.Arg141Ser
ENST00000689001.1:n.1345A>C
ENST00000689195.1:c.639A>C	ENSP00000509895.1:p.Arg213Ser
ENST00000689239.1:n.890A>C
ENST00000689795.1:n.984A>C
ENST00000690835.1:c.*102A>C	ENSP00000509038.1:n.*102A>C
ENST00000690993.1:n.1478A>C
ENST00000691295.1:c.*206A>C	ENSP00000508706.1:n.*206A>C
ENST00000691918.1:c.1013A>C	ENSP00000509525.1:n.1013A>C
ENST00000692152.1:c.654A>C	ENSP00000509317.1:p.Arg218Ser
ENST00000692344.1:n.1210A>C
ENST00000693363.1:c.765A>C	ENSP00000510411.1:p.Arg255Ser
ENST00000693367.1:c.723A>C	ENSP00000508815.1:p.Arg241Ser
ENST00000693639.1:c.716A>C	ENSP00000510223.1:n.716A>C
ENST00000693646.1:c.629A>C	ENSP00000508449.1:n.629A>C
ENST00000352397.10:c.723A>C MANE Select	ENSP00000338461.6:p.Arg241Ser
ENST00000352397.9:c.723A>C	ENSP00000338461.6:p.Arg241Ser
ENST00000361740.8:c.822A>C	ENSP00000354468.4:p.Arg274Ser
ENST00000402438.5:c.654A>C	ENSP00000385679.1:p.Arg218Ser
ENST00000407332.5:c.654A>C	ENSP00000384457.1:p.Arg218Ser
ENST00000407623.7:c.654A>C	ENSP00000384834.3:p.Arg218Ser
ENST00000470741.1:n.2857A>C
NM_000398.6:c.723A>C	NP_000389.1:p.Arg241Ser
NM_001129819.2:c.654A>C	NP_001123291.1:p.Arg218Ser
NM_001171660.1:c.822A>C	NP_001165131.1:p.Arg274Ser
NM_001171661.1:c.654A>C	NP_001165132.1:p.Arg218Ser
NM_007326.4:c.654A>C	NP_015565.1:p.Arg218Ser
NM_000398.7:c.723A>C MANE Select	NP_000389.1:p.Arg241Ser
NM_001171660.2:c.822A>C	NP_001165131.1:p.Arg274Ser