Canonical Allele Identifier: CA10269715

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627616G>A , CM000684.2:g.42627616G>A	GRCh38
NC_000022.10:g.43023622G>A , CM000684.1:g.43023622G>A	GRCh37
NC_000022.9:g.41353566G>A	NCBI36
NG_012194.1:g.26784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.668C>T	ENSP00000354468.5:p.Ala223Val
ENST00000402438.6:c.467C>T	ENSP00000385679.1:p.Ala156Val
ENST00000407332.6:c.554C>T	ENSP00000384457.2:p.Ala185Val
ENST00000407623.8:c.467C>T	ENSP00000384834.3:p.Ala156Val
ENST00000438270.2:c.467C>T	ENSP00000403439.2:p.Ala156Val
ENST00000617178.5:c.73C>T
ENST00000684963.1:n.2276C>T
ENST00000686523.1:c.*485C>T	ENSP00000508940.1:n.*485C>T
ENST00000687183.1:n.597C>T
ENST00000687198.1:c.467C>T	ENSP00000508492.1:p.Ala156Val
ENST00000688117.1:c.635C>T	ENSP00000509015.1:p.Ala212Val
ENST00000688244.1:c.333+3266C>T	ENSP00000510355.1:n.333+3266C>T
ENST00000689001.1:n.943C>T
ENST00000689195.1:c.464-227C>T	ENSP00000509895.1:n.464-227C>T
ENST00000689239.1:n.703C>T
ENST00000689795.1:n.698C>T
ENST00000690835.1:c.536C>T	ENSP00000509038.1:p.Ala179Val
ENST00000690993.1:n.1076C>T
ENST00000691295.1:c.*19C>T	ENSP00000508706.1:n.*19C>T
ENST00000691918.1:c.515C>T	ENSP00000509525.1:p.Ala172Val
ENST00000692152.1:c.467C>T	ENSP00000509317.1:p.Ala156Val
ENST00000692344.1:n.1023C>T
ENST00000693363.1:c.536C>T	ENSP00000510411.1:p.Ala179Val
ENST00000693367.1:c.536C>T	ENSP00000508815.1:p.Ala179Val
ENST00000693639.1:c.529C>T	ENSP00000510223.1:n.529C>T
ENST00000693646.1:c.442C>T	ENSP00000508449.1:n.442C>T
ENST00000352397.10:c.536C>T MANE Select	ENSP00000338461.6:p.Ala179Val
ENST00000352397.9:c.536C>T	ENSP00000338461.6:p.Ala179Val
ENST00000361740.8:c.635C>T	ENSP00000354468.4:p.Ala212Val
ENST00000402438.5:c.467C>T	ENSP00000385679.1:p.Ala156Val
ENST00000407332.5:c.467C>T	ENSP00000384457.1:p.Ala156Val
ENST00000407623.7:c.467C>T	ENSP00000384834.3:p.Ala156Val
ENST00000470741.1:n.2670C>T
NM_000398.6:c.536C>T	NP_000389.1:p.Ala179Val
NM_001129819.2:c.467C>T	NP_001123291.1:p.Ala156Val
NM_001171660.1:c.635C>T	NP_001165131.1:p.Ala212Val
NM_001171661.1:c.467C>T	NP_001165132.1:p.Ala156Val
NM_007326.4:c.467C>T	NP_015565.1:p.Ala156Val
NM_000398.7:c.536C>T MANE Select	NP_000389.1:p.Ala179Val
NM_001171660.2:c.635C>T	NP_001165131.1:p.Ala212Val