Canonical Allele Identifier: CA514812677

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019807T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623801T>G , CM000684.2:g.42623801T>G	GRCh38
NC_000022.10:g.43019807T>G , CM000684.1:g.43019807T>G	GRCh37
NC_000022.9:g.41349751T>G	NCBI36
NG_012194.1:g.30599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.853A>C	ENSP00000354468.5:p.Arg285=
ENST00000402438.6:c.652A>C	ENSP00000385679.1:p.Arg218=
ENST00000407332.6:c.739A>C	ENSP00000384457.2:p.Arg247=
ENST00000407623.8:c.652A>C	ENSP00000384834.3:p.Arg218=
ENST00000617178.5:c.258A>C
ENST00000684963.1:n.2461A>C
ENST00000685184.1:n.313A>C
ENST00000686523.1:c.*670A>C	ENSP00000508940.1:n.*670A>C
ENST00000687183.1:n.997A>C
ENST00000687198.1:c.652A>C	ENSP00000508492.1:p.Arg218=
ENST00000688117.1:c.820A>C	ENSP00000509015.1:p.Arg274=
ENST00000688244.1:c.421A>C	ENSP00000510355.1:p.Arg141=
ENST00000689001.1:n.1343A>C
ENST00000689195.1:c.637A>C	ENSP00000509895.1:p.Arg213=
ENST00000689239.1:n.888A>C
ENST00000689795.1:n.982A>C
ENST00000690835.1:c.*100A>C	ENSP00000509038.1:n.*100A>C
ENST00000690993.1:n.1476A>C
ENST00000691295.1:c.*204A>C	ENSP00000508706.1:n.*204A>C
ENST00000691918.1:c.1011A>C	ENSP00000509525.1:n.1011A>C
ENST00000692152.1:c.652A>C	ENSP00000509317.1:p.Arg218=
ENST00000692344.1:n.1208A>C
ENST00000693363.1:c.763A>C	ENSP00000510411.1:p.Arg255=
ENST00000693367.1:c.721A>C	ENSP00000508815.1:p.Arg241=
ENST00000693639.1:c.714A>C	ENSP00000510223.1:n.714A>C
ENST00000693646.1:c.627A>C	ENSP00000508449.1:n.627A>C
ENST00000352397.10:c.721A>C MANE Select	ENSP00000338461.6:p.Arg241=
ENST00000352397.9:c.721A>C	ENSP00000338461.6:p.Arg241=
ENST00000361740.8:c.820A>C	ENSP00000354468.4:p.Arg274=
ENST00000402438.5:c.652A>C	ENSP00000385679.1:p.Arg218=
ENST00000407332.5:c.652A>C	ENSP00000384457.1:p.Arg218=
ENST00000407623.7:c.652A>C	ENSP00000384834.3:p.Arg218=
ENST00000470741.1:n.2855A>C
NM_000398.6:c.721A>C	NP_000389.1:p.Arg241=
NM_001129819.2:c.652A>C	NP_001123291.1:p.Arg218=
NM_001171660.1:c.820A>C	NP_001165131.1:p.Arg274=
NM_001171661.1:c.652A>C	NP_001165132.1:p.Arg218=
NM_007326.4:c.652A>C	NP_015565.1:p.Arg218=
NM_000398.7:c.721A>C MANE Select	NP_000389.1:p.Arg241=
NM_001171660.2:c.820A>C	NP_001165131.1:p.Arg274=