Canonical Allele Identifier: CA372344157

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168324-G-A
• MyVariant Identifiers: chr8:g.142178423G>A (hg19) ; chr8:g.141168324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168324G>A , CM000670.2:g.141168324G>A	GRCh38
NC_000008.10:g.142178423G>A , CM000670.1:g.142178423G>A	GRCh37
NC_000008.9:g.142247605G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2074G>A MANE Select	ENSP00000428714.1:p.Glu692Lys
ENST00000262585.6:c.1834G>A	ENSP00000262585.2:p.Glu612Lys
ENST00000424248.2:c.1678G>A	ENSP00000410594.1:p.Glu560Lys
ENST00000518668.5:c.1847G>A
ENST00000519811.5:c.2074G>A	ENSP00000428714.1:p.Glu692Lys
ENST00000520482.1:n.1615G>A
NM_014957.2:c.1834G>A	NP_055772.2:p.Glu612Lys
XM_005250838.3:c.1873G>A	XP_005250895.2:p.Glu625Lys
XM_005250839.2:c.1873G>A	XP_005250896.2:p.Glu625Lys
XM_005250840.3:c.1717G>A	XP_005250897.2:p.Glu573Lys
XM_005250841.2:c.1717G>A	XP_005250898.2:p.Glu573Lys
XM_005250842.3:c.1840G>A	XP_005250899.1:p.Glu614Lys
XM_005250843.3:c.1330G>A	XP_005250900.1:p.Glu444Lys
XM_011516933.1:c.1873G>A	XP_011515235.1:p.Glu625Lys
XM_011516934.1:c.1873G>A	XP_011515236.1:p.Glu625Lys
XM_011516935.1:c.1507G>A	XP_011515237.1:p.Glu503Lys
XM_011516936.1:c.1501G>A	XP_011515238.1:p.Glu501Lys
XM_011516937.1:c.1873G>A	XP_011515239.1:p.Glu625Lys
XM_011516938.1:c.1042G>A	XP_011515240.1:p.Glu348Lys
XM_011516939.1:c.571G>A	XP_011515241.1:p.Glu191Lys
XM_011516940.1:c.571G>A	XP_011515242.1:p.Glu191Lys
XM_011516941.1:c.1873G>A	XP_011515243.1:p.Glu625Lys
XM_011516942.1:c.1873G>A	XP_011515244.1:p.Glu625Lys
XR_242384.2:n.2003G>A
XR_928310.1:n.2003G>A
XR_928311.1:n.2003G>A
XR_928312.1:n.2003G>A
NM_001352890.2:c.2074G>A	NP_001339819.2:p.Glu692Lys
NM_001362798.1:c.2074G>A	NP_001349727.1:p.Glu692Lys
NM_014957.4:c.1873G>A	NP_055772.3:p.Glu625Lys
NR_148197.2:n.2170G>A
XM_005250840.5:c.1918G>A	XP_005250897.3:p.Glu640Lys
XM_005250841.4:c.1918G>A	XP_005250898.3:p.Glu640Lys
XM_005250842.4:c.1840G>A	XP_005250899.1:p.Glu614Lys
XM_011516933.2:c.2074G>A	XP_011515235.2:p.Glu692Lys
XM_011516934.3:c.2074G>A	XP_011515236.2:p.Glu692Lys
XM_011516937.2:c.2074G>A	XP_011515239.2:p.Glu692Lys
XM_011516938.3:c.1042G>A	XP_011515240.1:p.Glu348Lys
XM_011516939.3:c.571G>A	XP_011515241.1:p.Glu191Lys
XM_011516940.2:c.571G>A	XP_011515242.1:p.Glu191Lys
XM_011516941.3:c.2074G>A	XP_011515243.2:p.Glu692Lys
XM_017013241.1:c.1873G>A	XP_016868730.1:p.Glu625Lys
XM_017013242.1:c.1330G>A	XP_016868731.1:p.Glu444Lys
XM_017013243.1:c.610G>A	XP_016868732.1:p.Glu204Lys
XR_001745497.2:n.2220G>A
XR_001745498.2:n.2220G>A
XR_928310.3:n.2220G>A
XR_928312.3:n.2220G>A
NM_001352890.3:c.2074G>A MANE Select	NP_001339819.2:p.Glu692Lys
NM_001362798.2:c.2074G>A	NP_001349727.1:p.Glu692Lys
NM_014957.5:c.1873G>A	NP_055772.3:p.Glu625Lys
NR_148197.3:n.2193G>A