Canonical Allele Identifier: CA514813092

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019880G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623874G>T , CM000684.2:g.42623874G>T	GRCh38
NC_000022.10:g.43019880G>T , CM000684.1:g.43019880G>T	GRCh37
NC_000022.9:g.41349824G>T	NCBI36
NG_012194.1:g.30526C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.780C>A	ENSP00000354468.5:p.Ile260=
ENST00000402438.6:c.579C>A	ENSP00000385679.1:p.Ile193=
ENST00000407332.6:c.666C>A	ENSP00000384457.2:p.Ile222=
ENST00000407623.8:c.579C>A	ENSP00000384834.3:p.Ile193=
ENST00000617178.5:c.185C>A
ENST00000684963.1:n.2388C>A
ENST00000685184.1:n.240C>A
ENST00000686523.1:c.*597C>A	ENSP00000508940.1:n.*597C>A
ENST00000687183.1:n.924C>A
ENST00000687198.1:c.579C>A	ENSP00000508492.1:p.Ile193=
ENST00000688117.1:c.747C>A	ENSP00000509015.1:p.Ile249=
ENST00000688244.1:c.348C>A	ENSP00000510355.1:p.Ile116=
ENST00000689001.1:n.1270C>A
ENST00000689195.1:c.564C>A	ENSP00000509895.1:p.Ile188=
ENST00000689239.1:n.815C>A
ENST00000689795.1:n.909C>A
ENST00000690835.1:c.*27C>A	ENSP00000509038.1:n.*27C>A
ENST00000690993.1:n.1403C>A
ENST00000691295.1:c.*131C>A	ENSP00000508706.1:n.*131C>A
ENST00000691918.1:c.938C>A	ENSP00000509525.1:n.938C>A
ENST00000692152.1:c.579C>A	ENSP00000509317.1:p.Ile193=
ENST00000692344.1:n.1135C>A
ENST00000693363.1:c.690C>A	ENSP00000510411.1:p.Ile230=
ENST00000693367.1:c.648C>A	ENSP00000508815.1:p.Ile216=
ENST00000693639.1:c.641C>A	ENSP00000510223.1:n.641C>A
ENST00000693646.1:c.554C>A	ENSP00000508449.1:n.554C>A
ENST00000352397.10:c.648C>A MANE Select	ENSP00000338461.6:p.Ile216=
ENST00000352397.9:c.648C>A	ENSP00000338461.6:p.Ile216=
ENST00000361740.8:c.747C>A	ENSP00000354468.4:p.Ile249=
ENST00000402438.5:c.579C>A	ENSP00000385679.1:p.Ile193=
ENST00000407332.5:c.579C>A	ENSP00000384457.1:p.Ile193=
ENST00000407623.7:c.579C>A	ENSP00000384834.3:p.Ile193=
ENST00000470741.1:n.2782C>A
NM_000398.6:c.648C>A	NP_000389.1:p.Ile216=
NM_001129819.2:c.579C>A	NP_001123291.1:p.Ile193=
NM_001171660.1:c.747C>A	NP_001165131.1:p.Ile249=
NM_001171661.1:c.579C>A	NP_001165132.1:p.Ile193=
NM_007326.4:c.579C>A	NP_015565.1:p.Ile193=
NM_000398.7:c.648C>A MANE Select	NP_000389.1:p.Ile216=
NM_001171660.2:c.747C>A	NP_001165131.1:p.Ile249=