Canonical Allele Identifier: CA411796712

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019882T>G (hg19) ; chr22:g.42623876T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623876T>G , CM000684.2:g.42623876T>G	GRCh38
NC_000022.10:g.43019882T>G , CM000684.1:g.43019882T>G	GRCh37
NC_000022.9:g.41349826T>G	NCBI36
NG_012194.1:g.30524A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.778A>C	ENSP00000354468.5:p.Ile260Leu
ENST00000402438.6:c.577A>C	ENSP00000385679.1:p.Ile193Leu
ENST00000407332.6:c.664A>C	ENSP00000384457.2:p.Ile222Leu
ENST00000407623.8:c.577A>C	ENSP00000384834.3:p.Ile193Leu
ENST00000617178.5:c.183A>C
ENST00000684963.1:n.2386A>C
ENST00000685184.1:n.238A>C
ENST00000686523.1:c.*595A>C	ENSP00000508940.1:n.*595A>C
ENST00000687183.1:n.922A>C
ENST00000687198.1:c.577A>C	ENSP00000508492.1:p.Ile193Leu
ENST00000688117.1:c.745A>C	ENSP00000509015.1:p.Ile249Leu
ENST00000688244.1:c.346A>C	ENSP00000510355.1:p.Ile116Leu
ENST00000689001.1:n.1268A>C
ENST00000689195.1:c.562A>C	ENSP00000509895.1:p.Ile188Leu
ENST00000689239.1:n.813A>C
ENST00000689795.1:n.907A>C
ENST00000690835.1:c.*25A>C	ENSP00000509038.1:n.*25A>C
ENST00000690993.1:n.1401A>C
ENST00000691295.1:c.*129A>C	ENSP00000508706.1:n.*129A>C
ENST00000691918.1:c.936A>C	ENSP00000509525.1:n.936A>C
ENST00000692152.1:c.577A>C	ENSP00000509317.1:p.Ile193Leu
ENST00000692344.1:n.1133A>C
ENST00000693363.1:c.688A>C	ENSP00000510411.1:p.Ile230Leu
ENST00000693367.1:c.646A>C	ENSP00000508815.1:p.Ile216Leu
ENST00000693639.1:c.639A>C	ENSP00000510223.1:n.639A>C
ENST00000693646.1:c.552A>C	ENSP00000508449.1:n.552A>C
ENST00000352397.10:c.646A>C MANE Select	ENSP00000338461.6:p.Ile216Leu
ENST00000352397.9:c.646A>C	ENSP00000338461.6:p.Ile216Leu
ENST00000361740.8:c.745A>C	ENSP00000354468.4:p.Ile249Leu
ENST00000402438.5:c.577A>C	ENSP00000385679.1:p.Ile193Leu
ENST00000407332.5:c.577A>C	ENSP00000384457.1:p.Ile193Leu
ENST00000407623.7:c.577A>C	ENSP00000384834.3:p.Ile193Leu
ENST00000470741.1:n.2780A>C
NM_000398.6:c.646A>C	NP_000389.1:p.Ile216Leu
NM_001129819.2:c.577A>C	NP_001123291.1:p.Ile193Leu
NM_001171660.1:c.745A>C	NP_001165131.1:p.Ile249Leu
NM_001171661.1:c.577A>C	NP_001165132.1:p.Ile193Leu
NM_007326.4:c.577A>C	NP_015565.1:p.Ile193Leu
NM_000398.7:c.646A>C MANE Select	NP_000389.1:p.Ile216Leu
NM_001171660.2:c.745A>C	NP_001165131.1:p.Ile249Leu