Canonical Allele Identifier: CA2657074140

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42631231-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42631231C>A , CM000684.2:g.42631231C>A	GRCh38
NC_000022.10:g.43027237C>A , CM000684.1:g.43027237C>A	GRCh37
NC_000022.9:g.41357181C>A	NCBI36
NG_012194.1:g.23169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.226+147G>T	ENSP00000354468.5:n.226+147G>T
ENST00000402438.6:c.157+147G>T	ENSP00000385679.1:n.157+147G>T
ENST00000407332.6:c.244+147G>T	ENSP00000384457.2:n.244+147G>T
ENST00000407623.8:c.157+147G>T	ENSP00000384834.3:n.157+147G>T
ENST00000438270.2:c.157+147G>T	ENSP00000403439.2:n.157+147G>T
ENST00000466276.2:n.293+147G>T
ENST00000686129.1:c.157+147G>T	ENSP00000508623.1:n.157+147G>T
ENST00000686523.1:c.*175+147G>T	ENSP00000508940.1:n.*175+147G>T
ENST00000687183.1:n.287+147G>T
ENST00000687198.1:c.157+147G>T	ENSP00000508492.1:n.157+147G>T
ENST00000688117.1:c.325+147G>T	ENSP00000509015.1:n.325+147G>T
ENST00000688244.1:c.226+147G>T	ENSP00000510355.1:n.226+147G>T
ENST00000689001.1:n.391G>T
ENST00000689195.1:c.226+147G>T	ENSP00000509895.1:n.226+147G>T
ENST00000689239.1:n.393+147G>T
ENST00000689795.1:n.388+147G>T
ENST00000690835.1:c.226+147G>T	ENSP00000509038.1:n.226+147G>T
ENST00000690993.1:n.303+147G>T
ENST00000691295.1:c.226+147G>T	ENSP00000508706.1:n.226+147G>T
ENST00000691918.1:c.205+147G>T	ENSP00000509525.1:n.205+147G>T
ENST00000692152.1:c.157+147G>T	ENSP00000509317.1:n.157+147G>T
ENST00000692344.1:n.250+147G>T
ENST00000693157.1:c.147-243G>T	ENSP00000510610.1:n.147-243G>T
ENST00000693363.1:c.226+147G>T	ENSP00000510411.1:n.226+147G>T
ENST00000693367.1:c.226+147G>T	ENSP00000508815.1:n.226+147G>T
ENST00000693639.1:c.219+147G>T	ENSP00000510223.1:n.219+147G>T
ENST00000693646.1:c.133-243G>T	ENSP00000508449.1:n.133-243G>T
ENST00000693716.1:n.454+147G>T
ENST00000352397.10:c.226+147G>T MANE Select	ENSP00000338461.6:n.226+147G>T
ENST00000352397.9:c.226+147G>T	ENSP00000338461.6:n.226+147G>T
ENST00000361740.8:c.325+147G>T	ENSP00000354468.4:n.325+147G>T
ENST00000402438.5:c.157+147G>T	ENSP00000385679.1:n.157+147G>T
ENST00000407332.5:c.157+147G>T	ENSP00000384457.1:n.157+147G>T
ENST00000407623.7:c.157+147G>T	ENSP00000384834.3:n.157+147G>T
ENST00000438270.1:c.157+147G>T	ENSP00000403439.1:n.157+147G>T
ENST00000466276.1:n.391G>T
ENST00000470741.1:n.2118G>T
NM_000398.6:c.226+147G>T	NP_000389.1:n.226+147G>T
NM_001129819.2:c.157+147G>T	NP_001123291.1:n.157+147G>T
NM_001171660.1:c.325+147G>T	NP_001165131.1:n.325+147G>T
NM_001171661.1:c.157+147G>T	NP_001165132.1:n.157+147G>T
NM_007326.4:c.157+147G>T	NP_015565.1:n.157+147G>T
NM_000398.7:c.226+147G>T MANE Select	NP_000389.1:n.226+147G>T
NM_001171660.2:c.325+147G>T	NP_001165131.1:n.325+147G>T