Canonical Allele Identifier: CA514814727

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023612T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627606T>G , CM000684.2:g.42627606T>G	GRCh38
NC_000022.10:g.43023612T>G , CM000684.1:g.43023612T>G	GRCh37
NC_000022.9:g.41353556T>G	NCBI36
NG_012194.1:g.26794A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.678A>C	ENSP00000354468.5:p.Thr226=
ENST00000402438.6:c.477A>C	ENSP00000385679.1:p.Thr159=
ENST00000407332.6:c.564A>C	ENSP00000384457.2:p.Thr188=
ENST00000407623.8:c.477A>C	ENSP00000384834.3:p.Thr159=
ENST00000438270.2:c.477A>C	ENSP00000403439.2:p.Thr159=
ENST00000617178.5:c.83A>C
ENST00000684963.1:n.2286A>C
ENST00000686523.1:c.*495A>C	ENSP00000508940.1:n.*495A>C
ENST00000687183.1:n.607A>C
ENST00000687198.1:c.477A>C	ENSP00000508492.1:p.Thr159=
ENST00000688117.1:c.645A>C	ENSP00000509015.1:p.Thr215=
ENST00000688244.1:c.333+3276A>C	ENSP00000510355.1:n.333+3276A>C
ENST00000689001.1:n.953A>C
ENST00000689195.1:c.464-217A>C	ENSP00000509895.1:n.464-217A>C
ENST00000689239.1:n.713A>C
ENST00000689795.1:n.708A>C
ENST00000690835.1:c.546A>C	ENSP00000509038.1:p.Thr182=
ENST00000690993.1:n.1086A>C
ENST00000691295.1:c.*29A>C	ENSP00000508706.1:n.*29A>C
ENST00000691918.1:c.525A>C	ENSP00000509525.1:p.Thr175=
ENST00000692152.1:c.477A>C	ENSP00000509317.1:p.Thr159=
ENST00000692344.1:n.1033A>C
ENST00000693363.1:c.546A>C	ENSP00000510411.1:p.Thr182=
ENST00000693367.1:c.546A>C	ENSP00000508815.1:p.Thr182=
ENST00000693639.1:c.539A>C	ENSP00000510223.1:n.539A>C
ENST00000693646.1:c.452A>C	ENSP00000508449.1:n.452A>C
ENST00000352397.10:c.546A>C MANE Select	ENSP00000338461.6:p.Thr182=
ENST00000352397.9:c.546A>C	ENSP00000338461.6:p.Thr182=
ENST00000361740.8:c.645A>C	ENSP00000354468.4:p.Thr215=
ENST00000402438.5:c.477A>C	ENSP00000385679.1:p.Thr159=
ENST00000407332.5:c.477A>C	ENSP00000384457.1:p.Thr159=
ENST00000407623.7:c.477A>C	ENSP00000384834.3:p.Thr159=
ENST00000470741.1:n.2680A>C
NM_000398.6:c.546A>C	NP_000389.1:p.Thr182=
NM_001129819.2:c.477A>C	NP_001123291.1:p.Thr159=
NM_001171660.1:c.645A>C	NP_001165131.1:p.Thr215=
NM_001171661.1:c.477A>C	NP_001165132.1:p.Thr159=
NM_007326.4:c.477A>C	NP_015565.1:p.Thr159=
NM_000398.7:c.546A>C MANE Select	NP_000389.1:p.Thr182=
NM_001171660.2:c.645A>C	NP_001165131.1:p.Thr215=