Canonical Allele Identifier: CA411797701

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627338-T-C
• MyVariant Identifiers: chr22:g.43023344T>C (hg19) ; chr22:g.42627338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627338T>C , CM000684.2:g.42627338T>C	GRCh38
NC_000022.10:g.43023344T>C , CM000684.1:g.43023344T>C	GRCh37
NC_000022.9:g.41353288T>C	NCBI36
NG_012194.1:g.27062A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.731A>G	ENSP00000354468.5:p.Asp244Gly
ENST00000402438.6:c.530A>G	ENSP00000385679.1:p.Asp177Gly
ENST00000407332.6:c.617A>G	ENSP00000384457.2:p.Asp206Gly
ENST00000407623.8:c.530A>G	ENSP00000384834.3:p.Asp177Gly
ENST00000617178.5:c.136A>G
ENST00000684963.1:n.2339A>G
ENST00000686523.1:c.*548A>G	ENSP00000508940.1:n.*548A>G
ENST00000687183.1:n.875A>G
ENST00000687198.1:c.530A>G	ENSP00000508492.1:p.Asp177Gly
ENST00000688117.1:c.698A>G	ENSP00000509015.1:p.Asp233Gly
ENST00000688244.1:c.334-3450A>G	ENSP00000510355.1:n.334-3450A>G
ENST00000689001.1:n.1221A>G
ENST00000689195.1:c.515A>G	ENSP00000509895.1:p.Asp172Gly
ENST00000689239.1:n.766A>G
ENST00000689795.1:n.761A>G
ENST00000690835.1:c.599A>G	ENSP00000509038.1:p.Asp200Gly
ENST00000690993.1:n.1354A>G
ENST00000691295.1:c.*82A>G	ENSP00000508706.1:n.*82A>G
ENST00000691918.1:c.578A>G	ENSP00000509525.1:p.Asp193Gly
ENST00000692152.1:c.530A>G	ENSP00000509317.1:p.Asp177Gly
ENST00000692344.1:n.1086A>G
ENST00000693363.1:c.641A>G	ENSP00000510411.1:p.Asp214Gly
ENST00000693367.1:c.599A>G	ENSP00000508815.1:p.Asp200Gly
ENST00000693639.1:c.592A>G	ENSP00000510223.1:n.592A>G
ENST00000693646.1:c.505A>G	ENSP00000508449.1:n.505A>G
ENST00000352397.10:c.599A>G MANE Select	ENSP00000338461.6:p.Asp200Gly
ENST00000352397.9:c.599A>G	ENSP00000338461.6:p.Asp200Gly
ENST00000361740.8:c.698A>G	ENSP00000354468.4:p.Asp233Gly
ENST00000402438.5:c.530A>G	ENSP00000385679.1:p.Asp177Gly
ENST00000407332.5:c.530A>G	ENSP00000384457.1:p.Asp177Gly
ENST00000407623.7:c.530A>G	ENSP00000384834.3:p.Asp177Gly
ENST00000470741.1:n.2733A>G
NM_000398.6:c.599A>G	NP_000389.1:p.Asp200Gly
NM_001129819.2:c.530A>G	NP_001123291.1:p.Asp177Gly
NM_001171660.1:c.698A>G	NP_001165131.1:p.Asp233Gly
NM_001171661.1:c.530A>G	NP_001165132.1:p.Asp177Gly
NM_007326.4:c.530A>G	NP_015565.1:p.Asp177Gly
NM_000398.7:c.599A>G MANE Select	NP_000389.1:p.Asp200Gly
NM_001171660.2:c.698A>G	NP_001165131.1:p.Asp233Gly