Canonical Allele Identifier: CA411797913

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023613G>T (hg19) ; chr22:g.42627607G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627607G>T , CM000684.2:g.42627607G>T	GRCh38
NC_000022.10:g.43023613G>T , CM000684.1:g.43023613G>T	GRCh37
NC_000022.9:g.41353557G>T	NCBI36
NG_012194.1:g.26793C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.677C>A	ENSP00000354468.5:p.Thr226Lys
ENST00000402438.6:c.476C>A	ENSP00000385679.1:p.Thr159Lys
ENST00000407332.6:c.563C>A	ENSP00000384457.2:p.Thr188Lys
ENST00000407623.8:c.476C>A	ENSP00000384834.3:p.Thr159Lys
ENST00000438270.2:c.476C>A	ENSP00000403439.2:p.Thr159Lys
ENST00000617178.5:c.82C>A
ENST00000684963.1:n.2285C>A
ENST00000686523.1:c.*494C>A	ENSP00000508940.1:n.*494C>A
ENST00000687183.1:n.606C>A
ENST00000687198.1:c.476C>A	ENSP00000508492.1:p.Thr159Lys
ENST00000688117.1:c.644C>A	ENSP00000509015.1:p.Thr215Lys
ENST00000688244.1:c.333+3275C>A	ENSP00000510355.1:n.333+3275C>A
ENST00000689001.1:n.952C>A
ENST00000689195.1:c.464-218C>A	ENSP00000509895.1:n.464-218C>A
ENST00000689239.1:n.712C>A
ENST00000689795.1:n.707C>A
ENST00000690835.1:c.545C>A	ENSP00000509038.1:p.Thr182Lys
ENST00000690993.1:n.1085C>A
ENST00000691295.1:c.*28C>A	ENSP00000508706.1:n.*28C>A
ENST00000691918.1:c.524C>A	ENSP00000509525.1:p.Thr175Lys
ENST00000692152.1:c.476C>A	ENSP00000509317.1:p.Thr159Lys
ENST00000692344.1:n.1032C>A
ENST00000693363.1:c.545C>A	ENSP00000510411.1:p.Thr182Lys
ENST00000693367.1:c.545C>A	ENSP00000508815.1:p.Thr182Lys
ENST00000693639.1:c.538C>A	ENSP00000510223.1:n.538C>A
ENST00000693646.1:c.451C>A	ENSP00000508449.1:n.451C>A
ENST00000352397.10:c.545C>A MANE Select	ENSP00000338461.6:p.Thr182Lys
ENST00000352397.9:c.545C>A	ENSP00000338461.6:p.Thr182Lys
ENST00000361740.8:c.644C>A	ENSP00000354468.4:p.Thr215Lys
ENST00000402438.5:c.476C>A	ENSP00000385679.1:p.Thr159Lys
ENST00000407332.5:c.476C>A	ENSP00000384457.1:p.Thr159Lys
ENST00000407623.7:c.476C>A	ENSP00000384834.3:p.Thr159Lys
ENST00000470741.1:n.2679C>A
NM_000398.6:c.545C>A	NP_000389.1:p.Thr182Lys
NM_001129819.2:c.476C>A	NP_001123291.1:p.Thr159Lys
NM_001171660.1:c.644C>A	NP_001165131.1:p.Thr215Lys
NM_001171661.1:c.476C>A	NP_001165132.1:p.Thr159Lys
NM_007326.4:c.476C>A	NP_015565.1:p.Thr159Lys
NM_000398.7:c.545C>A MANE Select	NP_000389.1:p.Thr182Lys
NM_001171660.2:c.644C>A	NP_001165131.1:p.Thr215Lys