Canonical Allele Identifier: CA514812989

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019862C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623856C>G , CM000684.2:g.42623856C>G	GRCh38
NC_000022.10:g.43019862C>G , CM000684.1:g.43019862C>G	GRCh37
NC_000022.9:g.41349806C>G	NCBI36
NG_012194.1:g.30544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.798G>C	ENSP00000354468.5:p.Leu266=
ENST00000402438.6:c.597G>C	ENSP00000385679.1:p.Leu199=
ENST00000407332.6:c.684G>C	ENSP00000384457.2:p.Leu228=
ENST00000407623.8:c.597G>C	ENSP00000384834.3:p.Leu199=
ENST00000617178.5:c.203G>C
ENST00000684963.1:n.2406G>C
ENST00000685184.1:n.258G>C
ENST00000686523.1:c.*615G>C	ENSP00000508940.1:n.*615G>C
ENST00000687183.1:n.942G>C
ENST00000687198.1:c.597G>C	ENSP00000508492.1:p.Leu199=
ENST00000688117.1:c.765G>C	ENSP00000509015.1:p.Leu255=
ENST00000688244.1:c.366G>C	ENSP00000510355.1:p.Leu122=
ENST00000689001.1:n.1288G>C
ENST00000689195.1:c.582G>C	ENSP00000509895.1:p.Leu194=
ENST00000689239.1:n.833G>C
ENST00000689795.1:n.927G>C
ENST00000690835.1:c.*45G>C	ENSP00000509038.1:n.*45G>C
ENST00000690993.1:n.1421G>C
ENST00000691295.1:c.*149G>C	ENSP00000508706.1:n.*149G>C
ENST00000691918.1:c.956G>C	ENSP00000509525.1:n.956G>C
ENST00000692152.1:c.597G>C	ENSP00000509317.1:p.Leu199=
ENST00000692344.1:n.1153G>C
ENST00000693363.1:c.708G>C	ENSP00000510411.1:p.Leu236=
ENST00000693367.1:c.666G>C	ENSP00000508815.1:p.Leu222=
ENST00000693639.1:c.659G>C	ENSP00000510223.1:n.659G>C
ENST00000693646.1:c.572G>C	ENSP00000508449.1:n.572G>C
ENST00000352397.10:c.666G>C MANE Select	ENSP00000338461.6:p.Leu222=
ENST00000352397.9:c.666G>C	ENSP00000338461.6:p.Leu222=
ENST00000361740.8:c.765G>C	ENSP00000354468.4:p.Leu255=
ENST00000402438.5:c.597G>C	ENSP00000385679.1:p.Leu199=
ENST00000407332.5:c.597G>C	ENSP00000384457.1:p.Leu199=
ENST00000407623.7:c.597G>C	ENSP00000384834.3:p.Leu199=
ENST00000470741.1:n.2800G>C
NM_000398.6:c.666G>C	NP_000389.1:p.Leu222=
NM_001129819.2:c.597G>C	NP_001123291.1:p.Leu199=
NM_001171660.1:c.765G>C	NP_001165131.1:p.Leu255=
NM_001171661.1:c.597G>C	NP_001165132.1:p.Leu199=
NM_007326.4:c.597G>C	NP_015565.1:p.Leu199=
NM_000398.7:c.666G>C MANE Select	NP_000389.1:p.Leu222=
NM_001171660.2:c.765G>C	NP_001165131.1:p.Leu255=