Canonical Allele Identifier: CA411800329

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43026904A>T (hg19) ; chr22:g.42630898A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630898A>T , CM000684.2:g.42630898A>T	GRCh38
NC_000022.10:g.43026904A>T , CM000684.1:g.43026904A>T	GRCh37
NC_000022.9:g.41356848A>T	NCBI36
NG_012194.1:g.23502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.317T>A	ENSP00000354468.5:p.Val106Glu
ENST00000402438.6:c.248T>A	ENSP00000385679.1:p.Val83Glu
ENST00000407332.6:c.335T>A	ENSP00000384457.2:p.Val112Glu
ENST00000407623.8:c.248T>A	ENSP00000384834.3:p.Val83Glu
ENST00000438270.2:c.248T>A	ENSP00000403439.2:p.Val83Glu
ENST00000466276.2:n.384T>A
ENST00000686129.1:c.248T>A	ENSP00000508623.1:p.Val83Glu
ENST00000686523.1:c.*266T>A	ENSP00000508940.1:n.*266T>A
ENST00000687183.1:n.378T>A
ENST00000687198.1:c.248T>A	ENSP00000508492.1:p.Val83Glu
ENST00000688117.1:c.416T>A	ENSP00000509015.1:p.Val139Glu
ENST00000688244.1:c.317T>A	ENSP00000510355.1:p.Val106Glu
ENST00000689001.1:n.724T>A
ENST00000689195.1:c.317T>A	ENSP00000509895.1:p.Val106Glu
ENST00000689239.1:n.484T>A
ENST00000689795.1:n.479T>A
ENST00000690835.1:c.317T>A	ENSP00000509038.1:p.Val106Glu
ENST00000690993.1:n.394T>A
ENST00000691295.1:c.317T>A	ENSP00000508706.1:p.Val106Glu
ENST00000691918.1:c.296T>A	ENSP00000509525.1:p.Val99Glu
ENST00000692152.1:c.248T>A	ENSP00000509317.1:p.Val83Glu
ENST00000692344.1:n.341T>A
ENST00000693157.1:c.237T>A	ENSP00000510610.1:n.237T>A
ENST00000693363.1:c.317T>A	ENSP00000510411.1:p.Val106Glu
ENST00000693367.1:c.317T>A	ENSP00000508815.1:p.Val106Glu
ENST00000693639.1:c.310T>A	ENSP00000510223.1:p.Trp104Arg
ENST00000693646.1:c.223T>A	ENSP00000508449.1:p.Trp75Arg
ENST00000693716.1:n.545T>A
ENST00000352397.10:c.317T>A MANE Select	ENSP00000338461.6:p.Val106Glu
ENST00000352397.9:c.317T>A	ENSP00000338461.6:p.Val106Glu
ENST00000361740.8:c.416T>A	ENSP00000354468.4:p.Val139Glu
ENST00000402438.5:c.248T>A	ENSP00000385679.1:p.Val83Glu
ENST00000407332.5:c.248T>A	ENSP00000384457.1:p.Val83Glu
ENST00000407623.7:c.248T>A	ENSP00000384834.3:p.Val83Glu
ENST00000438270.1:c.248T>A	ENSP00000403439.1:p.Val83Glu
ENST00000470741.1:n.2451T>A
NM_000398.6:c.317T>A	NP_000389.1:p.Val106Glu
NM_001129819.2:c.248T>A	NP_001123291.1:p.Val83Glu
NM_001171660.1:c.416T>A	NP_001165131.1:p.Val139Glu
NM_001171661.1:c.248T>A	NP_001165132.1:p.Val83Glu
NM_007326.4:c.248T>A	NP_015565.1:p.Val83Glu
NM_000398.7:c.317T>A MANE Select	NP_000389.1:p.Val106Glu
NM_001171660.2:c.416T>A	NP_001165131.1:p.Val139Glu