Canonical Allele Identifier: CA10269725

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627680C>T , CM000684.2:g.42627680C>T	GRCh38
NC_000022.10:g.43023686C>T , CM000684.1:g.43023686C>T	GRCh37
NC_000022.9:g.41353630C>T	NCBI36
NG_012194.1:g.26720G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.472G>A MANE Select	NP_000389.1:p.Ala158Thr
ENST00000352397.10:c.472G>A MANE Select	ENSP00000338461.6:p.Ala158Thr
NM_000398.6:c.472G>A	NP_000389.1:p.Ala158Thr
NM_001129819.2:c.403G>A	NP_001123291.1:p.Ala135Thr
NM_001171660.1:c.571G>A	NP_001165131.1:p.Ala191Thr
NM_001171660.2:c.571G>A	NP_001165131.1:p.Ala191Thr
NM_001171661.1:c.403G>A	NP_001165132.1:p.Ala135Thr
NM_007326.4:c.403G>A	NP_015565.1:p.Ala135Thr
ENST00000352397.9:c.472G>A	ENSP00000338461.6:p.Ala158Thr
ENST00000361740.8:c.571G>A	ENSP00000354468.4:p.Ala191Thr
ENST00000361740.9:c.604G>A	ENSP00000354468.5:p.Ala202Thr
ENST00000402438.5:c.403G>A	ENSP00000385679.1:p.Ala135Thr
ENST00000402438.6:c.403G>A	ENSP00000385679.1:p.Ala135Thr
ENST00000407332.5:c.403G>A	ENSP00000384457.1:p.Ala135Thr
ENST00000407332.6:c.490G>A	ENSP00000384457.2:p.Ala164Thr
ENST00000407623.7:c.403G>A	ENSP00000384834.3:p.Ala135Thr
ENST00000407623.8:c.403G>A	ENSP00000384834.3:p.Ala135Thr
ENST00000438270.1:c.403G>A	ENSP00000403439.1:p.Ala135Thr
ENST00000438270.2:c.403G>A	ENSP00000403439.2:p.Ala135Thr
ENST00000470741.1:n.2606G>A
ENST00000617178.5:c.9G>A
ENST00000684963.1:n.2212G>A
ENST00000686523.1:c.*421G>A	ENSP00000508940.1:n.*421G>A
ENST00000687183.1:n.533G>A
ENST00000687198.1:c.403G>A	ENSP00000508492.1:p.Ala135Thr
ENST00000688117.1:c.571G>A	ENSP00000509015.1:p.Ala191Thr
ENST00000688244.1:c.333+3202G>A	ENSP00000510355.1:n.333+3202G>A
ENST00000689001.1:n.879G>A
ENST00000689195.1:c.464-291G>A	ENSP00000509895.1:n.464-291G>A
ENST00000689239.1:n.639G>A
ENST00000689795.1:n.634G>A
ENST00000690835.1:c.472G>A	ENSP00000509038.1:p.Ala158Thr
ENST00000690993.1:n.1012G>A
ENST00000691295.1:c.342G>A	ENSP00000508706.1:p.Ser114=
ENST00000691918.1:c.451G>A	ENSP00000509525.1:p.Ala151Thr
ENST00000692152.1:c.403G>A	ENSP00000509317.1:p.Ala135Thr
ENST00000692344.1:n.959G>A
ENST00000693363.1:c.472G>A	ENSP00000510411.1:p.Ala158Thr
ENST00000693367.1:c.472G>A	ENSP00000508815.1:p.Ala158Thr
ENST00000693639.1:c.465G>A	ENSP00000510223.1:p.Ser155=
ENST00000693646.1:c.378G>A	ENSP00000508449.1:p.Ser126=