Canonical Allele Identifier: CA411796327

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623804-C-G
• MyVariant Identifiers: chr22:g.43019810C>G (hg19) ; chr22:g.42623804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623804C>G , CM000684.2:g.42623804C>G	GRCh38
NC_000022.10:g.43019810C>G , CM000684.1:g.43019810C>G	GRCh37
NC_000022.9:g.41349754C>G	NCBI36
NG_012194.1:g.30596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.850G>C	ENSP00000354468.5:p.Asp284His
ENST00000402438.6:c.649G>C	ENSP00000385679.1:p.Asp217His
ENST00000407332.6:c.736G>C	ENSP00000384457.2:p.Asp246His
ENST00000407623.8:c.649G>C	ENSP00000384834.3:p.Asp217His
ENST00000617178.5:c.255G>C
ENST00000684963.1:n.2458G>C
ENST00000685184.1:n.310G>C
ENST00000686523.1:c.*667G>C	ENSP00000508940.1:n.*667G>C
ENST00000687183.1:n.994G>C
ENST00000687198.1:c.649G>C	ENSP00000508492.1:p.Asp217His
ENST00000688117.1:c.817G>C	ENSP00000509015.1:p.Asp273His
ENST00000688244.1:c.418G>C	ENSP00000510355.1:p.Asp140His
ENST00000689001.1:n.1340G>C
ENST00000689195.1:c.634G>C	ENSP00000509895.1:p.Asp212His
ENST00000689239.1:n.885G>C
ENST00000689795.1:n.979G>C
ENST00000690835.1:c.*97G>C	ENSP00000509038.1:n.*97G>C
ENST00000690993.1:n.1473G>C
ENST00000691295.1:c.*201G>C	ENSP00000508706.1:n.*201G>C
ENST00000691918.1:c.1008G>C	ENSP00000509525.1:n.1008G>C
ENST00000692152.1:c.649G>C	ENSP00000509317.1:p.Asp217His
ENST00000692344.1:n.1205G>C
ENST00000693363.1:c.760G>C	ENSP00000510411.1:p.Asp254His
ENST00000693367.1:c.718G>C	ENSP00000508815.1:p.Asp240His
ENST00000693639.1:c.711G>C	ENSP00000510223.1:n.711G>C
ENST00000693646.1:c.624G>C	ENSP00000508449.1:n.624G>C
ENST00000352397.10:c.718G>C MANE Select	ENSP00000338461.6:p.Asp240His
ENST00000352397.9:c.718G>C	ENSP00000338461.6:p.Asp240His
ENST00000361740.8:c.817G>C	ENSP00000354468.4:p.Asp273His
ENST00000402438.5:c.649G>C	ENSP00000385679.1:p.Asp217His
ENST00000407332.5:c.649G>C	ENSP00000384457.1:p.Asp217His
ENST00000407623.7:c.649G>C	ENSP00000384834.3:p.Asp217His
ENST00000470741.1:n.2852G>C
NM_000398.6:c.718G>C	NP_000389.1:p.Asp240His
NM_001129819.2:c.649G>C	NP_001123291.1:p.Asp217His
NM_001171660.1:c.817G>C	NP_001165131.1:p.Asp273His
NM_001171661.1:c.649G>C	NP_001165132.1:p.Asp217His
NM_007326.4:c.649G>C	NP_015565.1:p.Asp217His
NM_000398.7:c.718G>C MANE Select	NP_000389.1:p.Asp240His
NM_001171660.2:c.817G>C	NP_001165131.1:p.Asp273His