Canonical Allele Identifier: CA411796674

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623869-A-G
• MyVariant Identifiers: chr22:g.43019875A>G (hg19) ; chr22:g.42623869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623869A>G , CM000684.2:g.42623869A>G	GRCh38
NC_000022.10:g.43019875A>G , CM000684.1:g.43019875A>G	GRCh37
NC_000022.9:g.41349819A>G	NCBI36
NG_012194.1:g.30531T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.785T>C	ENSP00000354468.5:p.Leu262Pro
ENST00000402438.6:c.584T>C	ENSP00000385679.1:p.Leu195Pro
ENST00000407332.6:c.671T>C	ENSP00000384457.2:p.Leu224Pro
ENST00000407623.8:c.584T>C	ENSP00000384834.3:p.Leu195Pro
ENST00000617178.5:c.190T>C
ENST00000684963.1:n.2393T>C
ENST00000685184.1:n.245T>C
ENST00000686523.1:c.*602T>C	ENSP00000508940.1:n.*602T>C
ENST00000687183.1:n.929T>C
ENST00000687198.1:c.584T>C	ENSP00000508492.1:p.Leu195Pro
ENST00000688117.1:c.752T>C	ENSP00000509015.1:p.Leu251Pro
ENST00000688244.1:c.353T>C	ENSP00000510355.1:p.Leu118Pro
ENST00000689001.1:n.1275T>C
ENST00000689195.1:c.569T>C	ENSP00000509895.1:p.Leu190Pro
ENST00000689239.1:n.820T>C
ENST00000689795.1:n.914T>C
ENST00000690835.1:c.*32T>C	ENSP00000509038.1:n.*32T>C
ENST00000690993.1:n.1408T>C
ENST00000691295.1:c.*136T>C	ENSP00000508706.1:n.*136T>C
ENST00000691918.1:c.943T>C	ENSP00000509525.1:n.943T>C
ENST00000692152.1:c.584T>C	ENSP00000509317.1:p.Leu195Pro
ENST00000692344.1:n.1140T>C
ENST00000693363.1:c.695T>C	ENSP00000510411.1:p.Leu232Pro
ENST00000693367.1:c.653T>C	ENSP00000508815.1:p.Leu218Pro
ENST00000693639.1:c.646T>C	ENSP00000510223.1:n.646T>C
ENST00000693646.1:c.559T>C	ENSP00000508449.1:n.559T>C
ENST00000352397.10:c.653T>C MANE Select	ENSP00000338461.6:p.Leu218Pro
ENST00000352397.9:c.653T>C	ENSP00000338461.6:p.Leu218Pro
ENST00000361740.8:c.752T>C	ENSP00000354468.4:p.Leu251Pro
ENST00000402438.5:c.584T>C	ENSP00000385679.1:p.Leu195Pro
ENST00000407332.5:c.584T>C	ENSP00000384457.1:p.Leu195Pro
ENST00000407623.7:c.584T>C	ENSP00000384834.3:p.Leu195Pro
ENST00000470741.1:n.2787T>C
NM_000398.6:c.653T>C	NP_000389.1:p.Leu218Pro
NM_001129819.2:c.584T>C	NP_001123291.1:p.Leu195Pro
NM_001171660.1:c.752T>C	NP_001165131.1:p.Leu251Pro
NM_001171661.1:c.584T>C	NP_001165132.1:p.Leu195Pro
NM_007326.4:c.584T>C	NP_015565.1:p.Leu195Pro
NM_000398.7:c.653T>C MANE Select	NP_000389.1:p.Leu218Pro
NM_001171660.2:c.752T>C	NP_001165131.1:p.Leu251Pro