Canonical Allele Identifier: CA514820075

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42636751C>A , CM000684.2:g.42636751C>A	GRCh38
NC_000022.10:g.43032757C>A , CM000684.1:g.43032757C>A	GRCh37
NC_000022.9:g.41362701C>A	NCBI36
NG_012194.1:g.17649G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.117G>T MANE Select	NP_000389.1:p.Pro39=
ENST00000352397.10:c.117G>T MANE Select	ENSP00000338461.6:p.Pro39=
NM_000398.6:c.117G>T	NP_000389.1:p.Pro39=
NM_001129819.2:c.48G>T	NP_001123291.1:p.Pro16=
NM_001171660.1:c.216G>T	NP_001165131.1:p.Pro72=
NM_001171660.2:c.216G>T	NP_001165131.1:p.Pro72=
NM_001171661.1:c.48G>T	NP_001165132.1:p.Pro16=
NM_007326.4:c.48G>T	NP_015565.1:p.Pro16=
ENST00000352397.9:c.117G>T	ENSP00000338461.6:p.Pro39=
ENST00000361740.8:c.216G>T	ENSP00000354468.4:p.Pro72=
ENST00000361740.9:c.117G>T	ENSP00000354468.5:p.Pro39=
ENST00000402438.5:c.48G>T	ENSP00000385679.1:p.Pro16=
ENST00000402438.6:c.48G>T	ENSP00000385679.1:p.Pro16=
ENST00000407332.5:c.48G>T	ENSP00000384457.1:p.Pro16=
ENST00000407332.6:c.117G>T	ENSP00000384457.2:p.Pro39=
ENST00000407623.7:c.48G>T	ENSP00000384834.3:p.Pro16=
ENST00000407623.8:c.48G>T	ENSP00000384834.3:p.Pro16=
ENST00000438270.1:c.48G>T	ENSP00000403439.1:p.Pro16=
ENST00000438270.2:c.48G>T	ENSP00000403439.2:p.Pro16=
ENST00000466276.1:n.135G>T
ENST00000466276.2:n.184G>T
ENST00000686129.1:c.48G>T	ENSP00000508623.1:p.Pro16=
ENST00000686523.1:c.117G>T	ENSP00000508940.1:p.Pro39=
ENST00000687183.1:n.178G>T
ENST00000687198.1:c.48G>T	ENSP00000508492.1:p.Pro16=
ENST00000688004.1:n.162G>T
ENST00000688117.1:c.216G>T	ENSP00000509015.1:p.Pro72=
ENST00000688244.1:c.117G>T	ENSP00000510355.1:p.Pro39=
ENST00000689001.1:n.135G>T
ENST00000689195.1:c.117G>T	ENSP00000509895.1:p.Pro39=
ENST00000689239.1:n.154G>T
ENST00000689795.1:n.149G>T
ENST00000690835.1:c.117G>T	ENSP00000509038.1:p.Pro39=
ENST00000690993.1:n.194G>T
ENST00000691295.1:c.117G>T	ENSP00000508706.1:p.Pro39=
ENST00000691918.1:c.96G>T	ENSP00000509525.1:p.Pro32=
ENST00000692152.1:c.48G>T	ENSP00000509317.1:p.Pro16=
ENST00000692344.1:n.141G>T
ENST00000693157.1:c.96G>T	ENSP00000510610.1:p.Pro32=
ENST00000693363.1:c.117G>T	ENSP00000510411.1:p.Pro39=
ENST00000693367.1:c.117G>T	ENSP00000508815.1:p.Pro39=
ENST00000693639.1:c.96G>T	ENSP00000510223.1:p.Pro32=
ENST00000693646.1:c.96G>T	ENSP00000508449.1:p.Pro32=
ENST00000693716.1:n.345G>T