Canonical Allele Identifier: CA372344508

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168469-C-T
• MyVariant Identifiers: chr8:g.142178568C>T (hg19) ; chr8:g.141168469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168469C>T , CM000670.2:g.141168469C>T	GRCh38
NC_000008.10:g.142178568C>T , CM000670.1:g.142178568C>T	GRCh37
NC_000008.9:g.142247750C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2219C>T MANE Select	ENSP00000428714.1:p.Ser740Leu
ENST00000262585.6:c.1979C>T	ENSP00000262585.2:p.Ser660Leu
ENST00000424248.2:c.1823C>T	ENSP00000410594.1:p.Ser608Leu
ENST00000518668.5:c.1992C>T
ENST00000519811.5:c.2219C>T	ENSP00000428714.1:p.Ser740Leu
ENST00000520482.1:n.1760C>T
NM_014957.2:c.1979C>T	NP_055772.2:p.Ser660Leu
XM_005250838.3:c.2018C>T	XP_005250895.2:p.Ser673Leu
XM_005250839.2:c.2018C>T	XP_005250896.2:p.Ser673Leu
XM_005250840.3:c.1862C>T	XP_005250897.2:p.Ser621Leu
XM_005250841.2:c.1862C>T	XP_005250898.2:p.Ser621Leu
XM_005250842.3:c.1985C>T	XP_005250899.1:p.Ser662Leu
XM_005250843.3:c.1475C>T	XP_005250900.1:p.Ser492Leu
XM_011516933.1:c.2018C>T	XP_011515235.1:p.Ser673Leu
XM_011516934.1:c.2018C>T	XP_011515236.1:p.Ser673Leu
XM_011516935.1:c.1652C>T	XP_011515237.1:p.Ser551Leu
XM_011516936.1:c.1646C>T	XP_011515238.1:p.Ser549Leu
XM_011516937.1:c.2018C>T	XP_011515239.1:p.Ser673Leu
XM_011516938.1:c.1187C>T	XP_011515240.1:p.Ser396Leu
XM_011516939.1:c.716C>T	XP_011515241.1:p.Ser239Leu
XM_011516940.1:c.716C>T	XP_011515242.1:p.Ser239Leu
XM_011516941.1:c.2018C>T	XP_011515243.1:p.Ser673Leu
XM_011516942.1:c.2018C>T	XP_011515244.1:p.Ser673Leu
XR_242384.2:n.2148C>T
XR_928310.1:n.2148C>T
XR_928311.1:n.2148C>T
XR_928312.1:n.2148C>T
NM_001352890.2:c.2219C>T	NP_001339819.2:p.Ser740Leu
NM_001362798.1:c.2219C>T	NP_001349727.1:p.Ser740Leu
NM_014957.4:c.2018C>T	NP_055772.3:p.Ser673Leu
NR_148197.2:n.2315C>T
XM_005250840.5:c.2063C>T	XP_005250897.3:p.Ser688Leu
XM_005250841.4:c.2063C>T	XP_005250898.3:p.Ser688Leu
XM_005250842.4:c.1985C>T	XP_005250899.1:p.Ser662Leu
XM_011516933.2:c.2219C>T	XP_011515235.2:p.Ser740Leu
XM_011516934.3:c.2219C>T	XP_011515236.2:p.Ser740Leu
XM_011516937.2:c.2219C>T	XP_011515239.2:p.Ser740Leu
XM_011516938.3:c.1187C>T	XP_011515240.1:p.Ser396Leu
XM_011516939.3:c.716C>T	XP_011515241.1:p.Ser239Leu
XM_011516940.2:c.716C>T	XP_011515242.1:p.Ser239Leu
XM_011516941.3:c.2219C>T	XP_011515243.2:p.Ser740Leu
XM_017013241.1:c.2018C>T	XP_016868730.1:p.Ser673Leu
XM_017013242.1:c.1475C>T	XP_016868731.1:p.Ser492Leu
XM_017013243.1:c.755C>T	XP_016868732.1:p.Ser252Leu
XR_001745497.2:n.2365C>T
XR_001745498.2:n.2365C>T
XR_928310.3:n.2365C>T
XR_928312.3:n.2365C>T
NM_001352890.3:c.2219C>T MANE Select	NP_001339819.2:p.Ser740Leu
NM_001362798.2:c.2219C>T	NP_001349727.1:p.Ser740Leu
NM_014957.5:c.2018C>T	NP_055772.3:p.Ser673Leu
NR_148197.3:n.2338C>T