Canonical Allele Identifier: CA514812882

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019841A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623835A>G , CM000684.2:g.42623835A>G	GRCh38
NC_000022.10:g.43019841A>G , CM000684.1:g.43019841A>G	GRCh37
NC_000022.9:g.41349785A>G	NCBI36
NG_012194.1:g.30565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.819T>C	ENSP00000354468.5:p.His273=
ENST00000402438.6:c.618T>C	ENSP00000385679.1:p.His206=
ENST00000407332.6:c.705T>C	ENSP00000384457.2:p.His235=
ENST00000407623.8:c.618T>C	ENSP00000384834.3:p.His206=
ENST00000617178.5:c.224T>C
ENST00000684963.1:n.2427T>C
ENST00000685184.1:n.279T>C
ENST00000686523.1:c.*636T>C	ENSP00000508940.1:n.*636T>C
ENST00000687183.1:n.963T>C
ENST00000687198.1:c.618T>C	ENSP00000508492.1:p.His206=
ENST00000688117.1:c.786T>C	ENSP00000509015.1:p.His262=
ENST00000688244.1:c.387T>C	ENSP00000510355.1:p.His129=
ENST00000689001.1:n.1309T>C
ENST00000689195.1:c.603T>C	ENSP00000509895.1:p.His201=
ENST00000689239.1:n.854T>C
ENST00000689795.1:n.948T>C
ENST00000690835.1:c.*66T>C	ENSP00000509038.1:n.*66T>C
ENST00000690993.1:n.1442T>C
ENST00000691295.1:c.*170T>C	ENSP00000508706.1:n.*170T>C
ENST00000691918.1:c.977T>C	ENSP00000509525.1:n.977T>C
ENST00000692152.1:c.618T>C	ENSP00000509317.1:p.His206=
ENST00000692344.1:n.1174T>C
ENST00000693363.1:c.729T>C	ENSP00000510411.1:p.His243=
ENST00000693367.1:c.687T>C	ENSP00000508815.1:p.His229=
ENST00000693639.1:c.680T>C	ENSP00000510223.1:n.680T>C
ENST00000693646.1:c.593T>C	ENSP00000508449.1:n.593T>C
ENST00000352397.10:c.687T>C MANE Select	ENSP00000338461.6:p.His229=
ENST00000352397.9:c.687T>C	ENSP00000338461.6:p.His229=
ENST00000361740.8:c.786T>C	ENSP00000354468.4:p.His262=
ENST00000402438.5:c.618T>C	ENSP00000385679.1:p.His206=
ENST00000407332.5:c.618T>C	ENSP00000384457.1:p.His206=
ENST00000407623.7:c.618T>C	ENSP00000384834.3:p.His206=
ENST00000470741.1:n.2821T>C
NM_000398.6:c.687T>C	NP_000389.1:p.His229=
NM_001129819.2:c.618T>C	NP_001123291.1:p.His206=
NM_001171660.1:c.786T>C	NP_001165131.1:p.His262=
NM_001171661.1:c.618T>C	NP_001165132.1:p.His206=
NM_007326.4:c.618T>C	NP_015565.1:p.His206=
NM_000398.7:c.687T>C MANE Select	NP_000389.1:p.His229=
NM_001171660.2:c.786T>C	NP_001165131.1:p.His262=