Canonical Allele Identifier: CA411796700

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019881A>G (hg19) ; chr22:g.42623875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623875A>G , CM000684.2:g.42623875A>G	GRCh38
NC_000022.10:g.43019881A>G , CM000684.1:g.43019881A>G	GRCh37
NC_000022.9:g.41349825A>G	NCBI36
NG_012194.1:g.30525T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.779T>C	ENSP00000354468.5:p.Ile260Thr
ENST00000402438.6:c.578T>C	ENSP00000385679.1:p.Ile193Thr
ENST00000407332.6:c.665T>C	ENSP00000384457.2:p.Ile222Thr
ENST00000407623.8:c.578T>C	ENSP00000384834.3:p.Ile193Thr
ENST00000617178.5:c.184T>C
ENST00000684963.1:n.2387T>C
ENST00000685184.1:n.239T>C
ENST00000686523.1:c.*596T>C	ENSP00000508940.1:n.*596T>C
ENST00000687183.1:n.923T>C
ENST00000687198.1:c.578T>C	ENSP00000508492.1:p.Ile193Thr
ENST00000688117.1:c.746T>C	ENSP00000509015.1:p.Ile249Thr
ENST00000688244.1:c.347T>C	ENSP00000510355.1:p.Ile116Thr
ENST00000689001.1:n.1269T>C
ENST00000689195.1:c.563T>C	ENSP00000509895.1:p.Ile188Thr
ENST00000689239.1:n.814T>C
ENST00000689795.1:n.908T>C
ENST00000690835.1:c.*26T>C	ENSP00000509038.1:n.*26T>C
ENST00000690993.1:n.1402T>C
ENST00000691295.1:c.*130T>C	ENSP00000508706.1:n.*130T>C
ENST00000691918.1:c.937T>C	ENSP00000509525.1:n.937T>C
ENST00000692152.1:c.578T>C	ENSP00000509317.1:p.Ile193Thr
ENST00000692344.1:n.1134T>C
ENST00000693363.1:c.689T>C	ENSP00000510411.1:p.Ile230Thr
ENST00000693367.1:c.647T>C	ENSP00000508815.1:p.Ile216Thr
ENST00000693639.1:c.640T>C	ENSP00000510223.1:n.640T>C
ENST00000693646.1:c.553T>C	ENSP00000508449.1:n.553T>C
ENST00000352397.10:c.647T>C MANE Select	ENSP00000338461.6:p.Ile216Thr
ENST00000352397.9:c.647T>C	ENSP00000338461.6:p.Ile216Thr
ENST00000361740.8:c.746T>C	ENSP00000354468.4:p.Ile249Thr
ENST00000402438.5:c.578T>C	ENSP00000385679.1:p.Ile193Thr
ENST00000407332.5:c.578T>C	ENSP00000384457.1:p.Ile193Thr
ENST00000407623.7:c.578T>C	ENSP00000384834.3:p.Ile193Thr
ENST00000470741.1:n.2781T>C
NM_000398.6:c.647T>C	NP_000389.1:p.Ile216Thr
NM_001129819.2:c.578T>C	NP_001123291.1:p.Ile193Thr
NM_001171660.1:c.746T>C	NP_001165131.1:p.Ile249Thr
NM_001171661.1:c.578T>C	NP_001165132.1:p.Ile193Thr
NM_007326.4:c.578T>C	NP_015565.1:p.Ile193Thr
NM_000398.7:c.647T>C MANE Select	NP_000389.1:p.Ile216Thr
NM_001171660.2:c.746T>C	NP_001165131.1:p.Ile249Thr