Canonical Allele Identifier: CA411796691

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019878A>T (hg19) ; chr22:g.42623872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623872A>T , CM000684.2:g.42623872A>T	GRCh38
NC_000022.10:g.43019878A>T , CM000684.1:g.43019878A>T	GRCh37
NC_000022.9:g.41349822A>T	NCBI36
NG_012194.1:g.30528T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.782T>A	ENSP00000354468.5:p.Leu261Gln
ENST00000402438.6:c.581T>A	ENSP00000385679.1:p.Leu194Gln
ENST00000407332.6:c.668T>A	ENSP00000384457.2:p.Leu223Gln
ENST00000407623.8:c.581T>A	ENSP00000384834.3:p.Leu194Gln
ENST00000617178.5:c.187T>A
ENST00000684963.1:n.2390T>A
ENST00000685184.1:n.242T>A
ENST00000686523.1:c.*599T>A	ENSP00000508940.1:n.*599T>A
ENST00000687183.1:n.926T>A
ENST00000687198.1:c.581T>A	ENSP00000508492.1:p.Leu194Gln
ENST00000688117.1:c.749T>A	ENSP00000509015.1:p.Leu250Gln
ENST00000688244.1:c.350T>A	ENSP00000510355.1:p.Leu117Gln
ENST00000689001.1:n.1272T>A
ENST00000689195.1:c.566T>A	ENSP00000509895.1:p.Leu189Gln
ENST00000689239.1:n.817T>A
ENST00000689795.1:n.911T>A
ENST00000690835.1:c.*29T>A	ENSP00000509038.1:n.*29T>A
ENST00000690993.1:n.1405T>A
ENST00000691295.1:c.*133T>A	ENSP00000508706.1:n.*133T>A
ENST00000691918.1:c.940T>A	ENSP00000509525.1:n.940T>A
ENST00000692152.1:c.581T>A	ENSP00000509317.1:p.Leu194Gln
ENST00000692344.1:n.1137T>A
ENST00000693363.1:c.692T>A	ENSP00000510411.1:p.Leu231Gln
ENST00000693367.1:c.650T>A	ENSP00000508815.1:p.Leu217Gln
ENST00000693639.1:c.643T>A	ENSP00000510223.1:n.643T>A
ENST00000693646.1:c.556T>A	ENSP00000508449.1:n.556T>A
ENST00000352397.10:c.650T>A MANE Select	ENSP00000338461.6:p.Leu217Gln
ENST00000352397.9:c.650T>A	ENSP00000338461.6:p.Leu217Gln
ENST00000361740.8:c.749T>A	ENSP00000354468.4:p.Leu250Gln
ENST00000402438.5:c.581T>A	ENSP00000385679.1:p.Leu194Gln
ENST00000407332.5:c.581T>A	ENSP00000384457.1:p.Leu194Gln
ENST00000407623.7:c.581T>A	ENSP00000384834.3:p.Leu194Gln
ENST00000470741.1:n.2784T>A
NM_000398.6:c.650T>A	NP_000389.1:p.Leu217Gln
NM_001129819.2:c.581T>A	NP_001123291.1:p.Leu194Gln
NM_001171660.1:c.749T>A	NP_001165131.1:p.Leu250Gln
NM_001171661.1:c.581T>A	NP_001165132.1:p.Leu194Gln
NM_007326.4:c.581T>A	NP_015565.1:p.Leu194Gln
NM_000398.7:c.650T>A MANE Select	NP_000389.1:p.Leu217Gln
NM_001171660.2:c.749T>A	NP_001165131.1:p.Leu250Gln