Canonical Allele Identifier: CA514814161

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023340G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627334G>A , CM000684.2:g.42627334G>A	GRCh38
NC_000022.10:g.43023340G>A , CM000684.1:g.43023340G>A	GRCh37
NC_000022.9:g.41353284G>A	NCBI36
NG_012194.1:g.27066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.735C>T	ENSP00000354468.5:p.His245=
ENST00000402438.6:c.534C>T	ENSP00000385679.1:p.His178=
ENST00000407332.6:c.621C>T	ENSP00000384457.2:p.His207=
ENST00000407623.8:c.534C>T	ENSP00000384834.3:p.His178=
ENST00000617178.5:c.140C>T
ENST00000684963.1:n.2343C>T
ENST00000686523.1:c.*552C>T	ENSP00000508940.1:n.*552C>T
ENST00000687183.1:n.879C>T
ENST00000687198.1:c.534C>T	ENSP00000508492.1:p.His178=
ENST00000688117.1:c.702C>T	ENSP00000509015.1:p.His234=
ENST00000688244.1:c.334-3446C>T	ENSP00000510355.1:n.334-3446C>T
ENST00000689001.1:n.1225C>T
ENST00000689195.1:c.519C>T	ENSP00000509895.1:p.His173=
ENST00000689239.1:n.770C>T
ENST00000689795.1:n.765C>T
ENST00000690835.1:c.603C>T	ENSP00000509038.1:p.His201=
ENST00000690993.1:n.1358C>T
ENST00000691295.1:c.*86C>T	ENSP00000508706.1:n.*86C>T
ENST00000691918.1:c.582C>T	ENSP00000509525.1:p.His194=
ENST00000692152.1:c.534C>T	ENSP00000509317.1:p.His178=
ENST00000692344.1:n.1090C>T
ENST00000693363.1:c.645C>T	ENSP00000510411.1:p.His215=
ENST00000693367.1:c.603C>T	ENSP00000508815.1:p.His201=
ENST00000693639.1:c.596C>T	ENSP00000510223.1:n.596C>T
ENST00000693646.1:c.509C>T	ENSP00000508449.1:n.509C>T
ENST00000352397.10:c.603C>T MANE Select	ENSP00000338461.6:p.His201=
ENST00000352397.9:c.603C>T	ENSP00000338461.6:p.His201=
ENST00000361740.8:c.702C>T	ENSP00000354468.4:p.His234=
ENST00000402438.5:c.534C>T	ENSP00000385679.1:p.His178=
ENST00000407332.5:c.534C>T	ENSP00000384457.1:p.His178=
ENST00000407623.7:c.534C>T	ENSP00000384834.3:p.His178=
ENST00000470741.1:n.2737C>T
NM_000398.6:c.603C>T	NP_000389.1:p.His201=
NM_001129819.2:c.534C>T	NP_001123291.1:p.His178=
NM_001171660.1:c.702C>T	NP_001165131.1:p.His234=
NM_001171661.1:c.534C>T	NP_001165132.1:p.His178=
NM_007326.4:c.534C>T	NP_015565.1:p.His178=
NM_000398.7:c.603C>T MANE Select	NP_000389.1:p.His201=
NM_001171660.2:c.702C>T	NP_001165131.1:p.His234=