Canonical Allele Identifier: CA411799243

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024207G>C (hg19) ; chr22:g.42628201G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628201G>C , CM000684.2:g.42628201G>C	GRCh38
NC_000022.10:g.43024207G>C , CM000684.1:g.43024207G>C	GRCh37
NC_000022.9:g.41354151G>C	NCBI36
NG_012194.1:g.26199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.414C>G	ENSP00000354468.5:p.Asp138Glu
ENST00000402438.6:c.345C>G	ENSP00000385679.1:p.Asp115Glu
ENST00000407332.6:c.432C>G	ENSP00000384457.2:p.Asp144Glu
ENST00000407623.8:c.345C>G	ENSP00000384834.3:p.Asp115Glu
ENST00000438270.2:c.345C>G	ENSP00000403439.2:p.Asp115Glu
ENST00000684963.1:n.1691C>G
ENST00000686129.1:c.345C>G	ENSP00000508623.1:p.Asp115Glu
ENST00000686523.1:c.*363C>G	ENSP00000508940.1:n.*363C>G
ENST00000687183.1:n.475C>G
ENST00000687198.1:c.345C>G	ENSP00000508492.1:p.Asp115Glu
ENST00000688117.1:c.513C>G	ENSP00000509015.1:p.Asp171Glu
ENST00000688244.1:c.333+2681C>G	ENSP00000510355.1:n.333+2681C>G
ENST00000689001.1:n.821C>G
ENST00000689195.1:c.414C>G	ENSP00000509895.1:p.Asp138Glu
ENST00000689239.1:n.581C>G
ENST00000689795.1:n.576C>G
ENST00000690835.1:c.414C>G	ENSP00000509038.1:p.Asp138Glu
ENST00000690993.1:n.491C>G
ENST00000691295.1:c.334-513C>G	ENSP00000508706.1:n.334-513C>G
ENST00000691918.1:c.393C>G	ENSP00000509525.1:p.Asp131Glu
ENST00000692152.1:c.345C>G	ENSP00000509317.1:p.Asp115Glu
ENST00000692344.1:n.438C>G
ENST00000693157.1:c.334C>G	ENSP00000510610.1:n.334C>G
ENST00000693363.1:c.414C>G	ENSP00000510411.1:p.Asp138Glu
ENST00000693367.1:c.414C>G	ENSP00000508815.1:p.Asp138Glu
ENST00000693639.1:c.407C>G	ENSP00000510223.1:p.Thr136Arg
ENST00000693646.1:c.320C>G	ENSP00000508449.1:p.Thr107Arg
ENST00000352397.10:c.414C>G MANE Select	ENSP00000338461.6:p.Asp138Glu
ENST00000352397.9:c.414C>G	ENSP00000338461.6:p.Asp138Glu
ENST00000361740.8:c.513C>G	ENSP00000354468.4:p.Asp171Glu
ENST00000402438.5:c.345C>G	ENSP00000385679.1:p.Asp115Glu
ENST00000407332.5:c.345C>G	ENSP00000384457.1:p.Asp115Glu
ENST00000407623.7:c.345C>G	ENSP00000384834.3:p.Asp115Glu
ENST00000438270.1:c.345C>G	ENSP00000403439.1:p.Asp115Glu
ENST00000470741.1:n.2548C>G
NM_000398.6:c.414C>G	NP_000389.1:p.Asp138Glu
NM_001129819.2:c.345C>G	NP_001123291.1:p.Asp115Glu
NM_001171660.1:c.513C>G	NP_001165131.1:p.Asp171Glu
NM_001171661.1:c.345C>G	NP_001165132.1:p.Asp115Glu
NM_007326.4:c.345C>G	NP_015565.1:p.Asp115Glu
NM_000398.7:c.414C>G MANE Select	NP_000389.1:p.Asp138Glu
NM_001171660.2:c.513C>G	NP_001165131.1:p.Asp171Glu