Canonical Allele Identifier: CA411796311

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019807T>A (hg19) ; chr22:g.42623801T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.853A>T	ENSP00000354468.5:p.Arg285Ter
ENST00000402438.6:c.652A>T	ENSP00000385679.1:p.Arg218Ter
ENST00000407332.6:c.739A>T	ENSP00000384457.2:p.Arg247Ter
ENST00000407623.8:c.652A>T	ENSP00000384834.3:p.Arg218Ter
ENST00000617178.5:c.258A>T
ENST00000684963.1:n.2461A>T
ENST00000685184.1:n.313A>T
ENST00000686523.1:c.*670A>T	ENSP00000508940.1:n.*670A>T
ENST00000687183.1:n.997A>T
ENST00000687198.1:c.652A>T	ENSP00000508492.1:p.Arg218Ter
ENST00000688117.1:c.820A>T	ENSP00000509015.1:p.Arg274Ter
ENST00000688244.1:c.421A>T	ENSP00000510355.1:p.Arg141Ter
ENST00000689001.1:n.1343A>T
ENST00000689195.1:c.637A>T	ENSP00000509895.1:p.Arg213Ter
ENST00000689239.1:n.888A>T
ENST00000689795.1:n.982A>T
ENST00000690835.1:c.*100A>T	ENSP00000509038.1:n.*100A>T
ENST00000690993.1:n.1476A>T
ENST00000691295.1:c.*204A>T	ENSP00000508706.1:n.*204A>T
ENST00000691918.1:c.1011A>T	ENSP00000509525.1:n.1011A>T
ENST00000692152.1:c.652A>T	ENSP00000509317.1:p.Arg218Ter
ENST00000692344.1:n.1208A>T
ENST00000693363.1:c.763A>T	ENSP00000510411.1:p.Arg255Ter
ENST00000693367.1:c.721A>T	ENSP00000508815.1:p.Arg241Ter
ENST00000693639.1:c.714A>T	ENSP00000510223.1:n.714A>T
ENST00000693646.1:c.627A>T	ENSP00000508449.1:n.627A>T
ENST00000352397.10:c.721A>T MANE Select	ENSP00000338461.6:p.Arg241Ter
ENST00000352397.9:c.721A>T	ENSP00000338461.6:p.Arg241Ter
ENST00000361740.8:c.820A>T	ENSP00000354468.4:p.Arg274Ter
ENST00000402438.5:c.652A>T	ENSP00000385679.1:p.Arg218Ter
ENST00000407332.5:c.652A>T	ENSP00000384457.1:p.Arg218Ter
ENST00000407623.7:c.652A>T	ENSP00000384834.3:p.Arg218Ter
ENST00000470741.1:n.2855A>T
NM_000398.6:c.721A>T	NP_000389.1:p.Arg241Ter
NM_001129819.2:c.652A>T	NP_001123291.1:p.Arg218Ter
NM_001171660.1:c.820A>T	NP_001165131.1:p.Arg274Ter
NM_001171661.1:c.652A>T	NP_001165132.1:p.Arg218Ter
NM_007326.4:c.652A>T	NP_015565.1:p.Arg218Ter
NM_000398.7:c.721A>T MANE Select	NP_000389.1:p.Arg241Ter
NM_001171660.2:c.820A>T	NP_001165131.1:p.Arg274Ter