Canonical Allele Identifier: CA411799061

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024178A>C (hg19) ; chr22:g.42628172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628172A>C , CM000684.2:g.42628172A>C	GRCh38
NC_000022.10:g.43024178A>C , CM000684.1:g.43024178A>C	GRCh37
NC_000022.9:g.41354122A>C	NCBI36
NG_012194.1:g.26228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.443T>G	ENSP00000354468.5:p.Leu148Arg
ENST00000402438.6:c.374T>G	ENSP00000385679.1:p.Leu125Arg
ENST00000407332.6:c.461T>G	ENSP00000384457.2:p.Leu154Arg
ENST00000407623.8:c.374T>G	ENSP00000384834.3:p.Leu125Arg
ENST00000438270.2:c.374T>G	ENSP00000403439.2:p.Leu125Arg
ENST00000684963.1:n.1720T>G
ENST00000686129.1:c.374T>G	ENSP00000508623.1:p.Leu125Arg
ENST00000686523.1:c.*392T>G	ENSP00000508940.1:n.*392T>G
ENST00000687183.1:n.504T>G
ENST00000687198.1:c.374T>G	ENSP00000508492.1:p.Leu125Arg
ENST00000688117.1:c.542T>G	ENSP00000509015.1:p.Leu181Arg
ENST00000688244.1:c.333+2710T>G	ENSP00000510355.1:n.333+2710T>G
ENST00000689001.1:n.850T>G
ENST00000689195.1:c.443T>G	ENSP00000509895.1:p.Leu148Arg
ENST00000689239.1:n.610T>G
ENST00000689795.1:n.605T>G
ENST00000690835.1:c.443T>G	ENSP00000509038.1:p.Leu148Arg
ENST00000690993.1:n.520T>G
ENST00000691295.1:c.334-484T>G	ENSP00000508706.1:n.334-484T>G
ENST00000691918.1:c.422T>G	ENSP00000509525.1:p.Leu141Arg
ENST00000692152.1:c.374T>G	ENSP00000509317.1:p.Leu125Arg
ENST00000692344.1:n.467T>G
ENST00000693157.1:c.363T>G	ENSP00000510610.1:n.363T>G
ENST00000693363.1:c.443T>G	ENSP00000510411.1:p.Leu148Arg
ENST00000693367.1:c.443T>G	ENSP00000508815.1:p.Leu148Arg
ENST00000693639.1:c.436T>G	ENSP00000510223.1:p.Cys146Gly
ENST00000693646.1:c.349T>G	ENSP00000508449.1:p.Cys117Gly
ENST00000352397.10:c.443T>G MANE Select	ENSP00000338461.6:p.Leu148Arg
ENST00000352397.9:c.443T>G	ENSP00000338461.6:p.Leu148Arg
ENST00000361740.8:c.542T>G	ENSP00000354468.4:p.Leu181Arg
ENST00000402438.5:c.374T>G	ENSP00000385679.1:p.Leu125Arg
ENST00000407332.5:c.374T>G	ENSP00000384457.1:p.Leu125Arg
ENST00000407623.7:c.374T>G	ENSP00000384834.3:p.Leu125Arg
ENST00000438270.1:c.374T>G	ENSP00000403439.1:p.Leu125Arg
ENST00000470741.1:n.2577T>G
NM_000398.6:c.443T>G	NP_000389.1:p.Leu148Arg
NM_001129819.2:c.374T>G	NP_001123291.1:p.Leu125Arg
NM_001171660.1:c.542T>G	NP_001165131.1:p.Leu181Arg
NM_001171661.1:c.374T>G	NP_001165132.1:p.Leu125Arg
NM_007326.4:c.374T>G	NP_015565.1:p.Leu125Arg
NM_000398.7:c.443T>G MANE Select	NP_000389.1:p.Leu148Arg
NM_001171660.2:c.542T>G	NP_001165131.1:p.Leu181Arg