Canonical Allele Identifier: CA411800645

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43026979A>T (hg19) ; chr22:g.42630973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630973A>T , CM000684.2:g.42630973A>T	GRCh38
NC_000022.10:g.43026979A>T , CM000684.1:g.43026979A>T	GRCh37
NC_000022.9:g.41356923A>T	NCBI36
NG_012194.1:g.23427T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.242T>A	ENSP00000354468.5:p.Leu81His
ENST00000402438.6:c.173T>A	ENSP00000385679.1:p.Leu58His
ENST00000407332.6:c.260T>A	ENSP00000384457.2:p.Leu87His
ENST00000407623.8:c.173T>A	ENSP00000384834.3:p.Leu58His
ENST00000438270.2:c.173T>A	ENSP00000403439.2:p.Leu58His
ENST00000466276.2:n.309T>A
ENST00000686129.1:c.173T>A	ENSP00000508623.1:p.Leu58His
ENST00000686523.1:c.*191T>A	ENSP00000508940.1:n.*191T>A
ENST00000687183.1:n.303T>A
ENST00000687198.1:c.173T>A	ENSP00000508492.1:p.Leu58His
ENST00000688117.1:c.341T>A	ENSP00000509015.1:p.Leu114His
ENST00000688244.1:c.242T>A	ENSP00000510355.1:p.Leu81His
ENST00000689001.1:n.649T>A
ENST00000689195.1:c.242T>A	ENSP00000509895.1:p.Leu81His
ENST00000689239.1:n.409T>A
ENST00000689795.1:n.404T>A
ENST00000690835.1:c.242T>A	ENSP00000509038.1:p.Leu81His
ENST00000690993.1:n.319T>A
ENST00000691295.1:c.242T>A	ENSP00000508706.1:p.Leu81His
ENST00000691918.1:c.221T>A	ENSP00000509525.1:p.Leu74His
ENST00000692152.1:c.173T>A	ENSP00000509317.1:p.Leu58His
ENST00000692344.1:n.266T>A
ENST00000693157.1:c.162T>A	ENSP00000510610.1:p.Pro54=
ENST00000693363.1:c.242T>A	ENSP00000510411.1:p.Leu81His
ENST00000693367.1:c.242T>A	ENSP00000508815.1:p.Leu81His
ENST00000693639.1:c.235T>A	ENSP00000510223.1:p.Ser79Thr
ENST00000693646.1:c.148T>A	ENSP00000508449.1:p.Ser50Thr
ENST00000693716.1:n.470T>A
ENST00000352397.10:c.242T>A MANE Select	ENSP00000338461.6:p.Leu81His
ENST00000352397.9:c.242T>A	ENSP00000338461.6:p.Leu81His
ENST00000361740.8:c.341T>A	ENSP00000354468.4:p.Leu114His
ENST00000402438.5:c.173T>A	ENSP00000385679.1:p.Leu58His
ENST00000407332.5:c.173T>A	ENSP00000384457.1:p.Leu58His
ENST00000407623.7:c.173T>A	ENSP00000384834.3:p.Leu58His
ENST00000438270.1:c.173T>A	ENSP00000403439.1:p.Leu58His
ENST00000470741.1:n.2376T>A
NM_000398.6:c.242T>A	NP_000389.1:p.Leu81His
NM_001129819.2:c.173T>A	NP_001123291.1:p.Leu58His
NM_001171660.1:c.341T>A	NP_001165131.1:p.Leu114His
NM_001171661.1:c.173T>A	NP_001165132.1:p.Leu58His
NM_007326.4:c.173T>A	NP_015565.1:p.Leu58His
NM_000398.7:c.242T>A MANE Select	NP_000389.1:p.Leu81His
NM_001171660.2:c.341T>A	NP_001165131.1:p.Leu114His