Canonical Allele Identifier: CA2657071422

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628059-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628059C>A , CM000684.2:g.42628059C>A	GRCh38
NC_000022.10:g.43024065C>A , CM000684.1:g.43024065C>A	GRCh37
NC_000022.9:g.41354009C>A	NCBI36
NG_012194.1:g.26341G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.463+93G>T	ENSP00000354468.5:n.463+93G>T
ENST00000402438.6:c.394+93G>T	ENSP00000385679.1:n.394+93G>T
ENST00000407332.6:c.481+93G>T	ENSP00000384457.2:n.481+93G>T
ENST00000407623.8:c.394+93G>T	ENSP00000384834.3:n.394+93G>T
ENST00000438270.2:c.394+93G>T	ENSP00000403439.2:n.394+93G>T
ENST00000684963.1:n.1833G>T
ENST00000686523.1:c.*412+93G>T	ENSP00000508940.1:n.*412+93G>T
ENST00000687183.1:n.524+93G>T
ENST00000687198.1:c.394+93G>T	ENSP00000508492.1:n.394+93G>T
ENST00000688117.1:c.562+93G>T	ENSP00000509015.1:n.562+93G>T
ENST00000688244.1:c.333+2823G>T	ENSP00000510355.1:n.333+2823G>T
ENST00000689001.1:n.870+93G>T
ENST00000689195.1:c.463+93G>T	ENSP00000509895.1:n.463+93G>T
ENST00000689239.1:n.630+93G>T
ENST00000689795.1:n.625+93G>T
ENST00000690835.1:c.463+93G>T	ENSP00000509038.1:n.463+93G>T
ENST00000690993.1:n.633G>T
ENST00000691295.1:c.334-371G>T	ENSP00000508706.1:n.334-371G>T
ENST00000691918.1:c.442+93G>T	ENSP00000509525.1:n.442+93G>T
ENST00000692152.1:c.394+93G>T	ENSP00000509317.1:n.394+93G>T
ENST00000692344.1:n.580G>T
ENST00000693363.1:c.463+93G>T	ENSP00000510411.1:n.463+93G>T
ENST00000693367.1:c.463+93G>T	ENSP00000508815.1:n.463+93G>T
ENST00000693639.1:c.456+93G>T	ENSP00000510223.1:n.456+93G>T
ENST00000693646.1:c.369+93G>T	ENSP00000508449.1:n.369+93G>T
ENST00000352397.10:c.463+93G>T MANE Select	ENSP00000338461.6:n.463+93G>T
ENST00000352397.9:c.463+93G>T	ENSP00000338461.6:n.463+93G>T
ENST00000361740.8:c.562+93G>T	ENSP00000354468.4:n.562+93G>T
ENST00000402438.5:c.394+93G>T	ENSP00000385679.1:n.394+93G>T
ENST00000407332.5:c.394+93G>T	ENSP00000384457.1:n.394+93G>T
ENST00000407623.7:c.394+93G>T	ENSP00000384834.3:n.394+93G>T
ENST00000438270.1:c.394+93G>T	ENSP00000403439.1:n.394+93G>T
ENST00000470741.1:n.2597+93G>T
NM_000398.6:c.463+93G>T	NP_000389.1:n.463+93G>T
NM_001129819.2:c.394+93G>T	NP_001123291.1:n.394+93G>T
NM_001171660.1:c.562+93G>T	NP_001165131.1:n.562+93G>T
NM_001171661.1:c.394+93G>T	NP_001165132.1:n.394+93G>T
NM_007326.4:c.394+93G>T	NP_015565.1:n.394+93G>T
NM_000398.7:c.463+93G>T MANE Select	NP_000389.1:n.463+93G>T
NM_001171660.2:c.562+93G>T	NP_001165131.1:n.562+93G>T