Canonical Allele Identifier: CA411796677

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019875A>T (hg19) ; chr22:g.42623869A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.785T>A	ENSP00000354468.5:p.Leu262Gln
ENST00000402438.6:c.584T>A	ENSP00000385679.1:p.Leu195Gln
ENST00000407332.6:c.671T>A	ENSP00000384457.2:p.Leu224Gln
ENST00000407623.8:c.584T>A	ENSP00000384834.3:p.Leu195Gln
ENST00000617178.5:c.190T>A
ENST00000684963.1:n.2393T>A
ENST00000685184.1:n.245T>A
ENST00000686523.1:c.*602T>A	ENSP00000508940.1:n.*602T>A
ENST00000687183.1:n.929T>A
ENST00000687198.1:c.584T>A	ENSP00000508492.1:p.Leu195Gln
ENST00000688117.1:c.752T>A	ENSP00000509015.1:p.Leu251Gln
ENST00000688244.1:c.353T>A	ENSP00000510355.1:p.Leu118Gln
ENST00000689001.1:n.1275T>A
ENST00000689195.1:c.569T>A	ENSP00000509895.1:p.Leu190Gln
ENST00000689239.1:n.820T>A
ENST00000689795.1:n.914T>A
ENST00000690835.1:c.*32T>A	ENSP00000509038.1:n.*32T>A
ENST00000690993.1:n.1408T>A
ENST00000691295.1:c.*136T>A	ENSP00000508706.1:n.*136T>A
ENST00000691918.1:c.943T>A	ENSP00000509525.1:n.943T>A
ENST00000692152.1:c.584T>A	ENSP00000509317.1:p.Leu195Gln
ENST00000692344.1:n.1140T>A
ENST00000693363.1:c.695T>A	ENSP00000510411.1:p.Leu232Gln
ENST00000693367.1:c.653T>A	ENSP00000508815.1:p.Leu218Gln
ENST00000693639.1:c.646T>A	ENSP00000510223.1:n.646T>A
ENST00000693646.1:c.559T>A	ENSP00000508449.1:n.559T>A
ENST00000352397.10:c.653T>A MANE Select	ENSP00000338461.6:p.Leu218Gln
ENST00000352397.9:c.653T>A	ENSP00000338461.6:p.Leu218Gln
ENST00000361740.8:c.752T>A	ENSP00000354468.4:p.Leu251Gln
ENST00000402438.5:c.584T>A	ENSP00000385679.1:p.Leu195Gln
ENST00000407332.5:c.584T>A	ENSP00000384457.1:p.Leu195Gln
ENST00000407623.7:c.584T>A	ENSP00000384834.3:p.Leu195Gln
ENST00000470741.1:n.2787T>A
NM_000398.6:c.653T>A	NP_000389.1:p.Leu218Gln
NM_001129819.2:c.584T>A	NP_001123291.1:p.Leu195Gln
NM_001171660.1:c.752T>A	NP_001165131.1:p.Leu251Gln
NM_001171661.1:c.584T>A	NP_001165132.1:p.Leu195Gln
NM_007326.4:c.584T>A	NP_015565.1:p.Leu195Gln
NM_000398.7:c.653T>A MANE Select	NP_000389.1:p.Leu218Gln
NM_001171660.2:c.752T>A	NP_001165131.1:p.Leu251Gln