Canonical Allele Identifier: CA2590748548

Gene: CYB5R3

Linked Data

• dbSNP Id: rs2146875119
• gnomAD v3: 22-42627245-G-A
• gnomAD v4: 22-42627245-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627245G>A , CM000684.2:g.42627245G>A	GRCh38
NC_000022.10:g.43023251G>A , CM000684.1:g.43023251G>A	GRCh37
NC_000022.9:g.41353195G>A	NCBI36
NG_012194.1:g.27155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.765+59C>T	ENSP00000354468.5:n.765+59C>T
ENST00000402438.6:c.564+59C>T	ENSP00000385679.1:n.564+59C>T
ENST00000407332.6:c.651+59C>T	ENSP00000384457.2:n.651+59C>T
ENST00000407623.8:c.564+59C>T	ENSP00000384834.3:n.564+59C>T
ENST00000617178.5:c.170+59C>T
ENST00000684963.1:n.2373+59C>T
ENST00000686523.1:c.*582+59C>T	ENSP00000508940.1:n.*582+59C>T
ENST00000687183.1:n.909+59C>T
ENST00000687198.1:c.564+59C>T	ENSP00000508492.1:n.564+59C>T
ENST00000688117.1:c.732+59C>T	ENSP00000509015.1:n.732+59C>T
ENST00000688244.1:c.334-3357C>T	ENSP00000510355.1:n.334-3357C>T
ENST00000689001.1:n.1255+59C>T
ENST00000689195.1:c.549+59C>T	ENSP00000509895.1:n.549+59C>T
ENST00000689239.1:n.800+59C>T
ENST00000689795.1:n.795+59C>T
ENST00000690835.1:c.633+59C>T	ENSP00000509038.1:n.633+59C>T
ENST00000690993.1:n.1388+59C>T
ENST00000691295.1:c.*116+59C>T	ENSP00000508706.1:n.*116+59C>T
ENST00000691918.1:c.612+59C>T	ENSP00000509525.1:n.612+59C>T
ENST00000692152.1:c.564+59C>T	ENSP00000509317.1:n.564+59C>T
ENST00000692344.1:n.1120+59C>T
ENST00000693363.1:c.675+59C>T	ENSP00000510411.1:n.675+59C>T
ENST00000693367.1:c.633+59C>T	ENSP00000508815.1:n.633+59C>T
ENST00000693639.1:c.626+59C>T	ENSP00000510223.1:n.626+59C>T
ENST00000693646.1:c.539+59C>T	ENSP00000508449.1:n.539+59C>T
ENST00000352397.10:c.633+59C>T MANE Select	ENSP00000338461.6:n.633+59C>T
ENST00000352397.9:c.633+59C>T	ENSP00000338461.6:n.633+59C>T
ENST00000361740.8:c.732+59C>T	ENSP00000354468.4:n.732+59C>T
ENST00000402438.5:c.564+59C>T	ENSP00000385679.1:n.564+59C>T
ENST00000407332.5:c.564+59C>T	ENSP00000384457.1:n.564+59C>T
ENST00000407623.7:c.564+59C>T	ENSP00000384834.3:n.564+59C>T
ENST00000470741.1:n.2767+59C>T
NM_000398.6:c.633+59C>T	NP_000389.1:n.633+59C>T
NM_001129819.2:c.564+59C>T	NP_001123291.1:n.564+59C>T
NM_001171660.1:c.732+59C>T	NP_001165131.1:n.732+59C>T
NM_001171661.1:c.564+59C>T	NP_001165132.1:n.564+59C>T
NM_007326.4:c.564+59C>T	NP_015565.1:n.564+59C>T
NM_000398.7:c.633+59C>T MANE Select	NP_000389.1:n.633+59C>T
NM_001171660.2:c.732+59C>T	NP_001165131.1:n.732+59C>T