Canonical Allele Identifier: CA372343590

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168064-T-G
• MyVariant Identifiers: chr8:g.142178163T>G (hg19) ; chr8:g.141168064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168064T>G , CM000670.2:g.141168064T>G	GRCh38
NC_000008.10:g.142178163T>G , CM000670.1:g.142178163T>G	GRCh37
NC_000008.9:g.142247345T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.1814T>G MANE Select	ENSP00000428714.1:p.Leu605Arg
ENST00000262585.6:c.1574T>G	ENSP00000262585.2:p.Leu525Arg
ENST00000424248.2:c.1418T>G	ENSP00000410594.1:p.Leu473Arg
ENST00000518668.5:c.1587T>G
ENST00000519811.5:c.1814T>G	ENSP00000428714.1:p.Leu605Arg
ENST00000520482.1:n.1355T>G
NM_014957.2:c.1574T>G	NP_055772.2:p.Leu525Arg
XM_005250838.3:c.1613T>G	XP_005250895.2:p.Leu538Arg
XM_005250839.2:c.1613T>G	XP_005250896.2:p.Leu538Arg
XM_005250840.3:c.1457T>G	XP_005250897.2:p.Leu486Arg
XM_005250841.2:c.1457T>G	XP_005250898.2:p.Leu486Arg
XM_005250842.3:c.1580T>G	XP_005250899.1:p.Leu527Arg
XM_005250843.3:c.1070T>G	XP_005250900.1:p.Leu357Arg
XM_011516933.1:c.1613T>G	XP_011515235.1:p.Leu538Arg
XM_011516934.1:c.1613T>G	XP_011515236.1:p.Leu538Arg
XM_011516935.1:c.1247T>G	XP_011515237.1:p.Leu416Arg
XM_011516936.1:c.1241T>G	XP_011515238.1:p.Leu414Arg
XM_011516937.1:c.1613T>G	XP_011515239.1:p.Leu538Arg
XM_011516938.1:c.782T>G	XP_011515240.1:p.Leu261Arg
XM_011516939.1:c.311T>G	XP_011515241.1:p.Leu104Arg
XM_011516940.1:c.311T>G	XP_011515242.1:p.Leu104Arg
XM_011516941.1:c.1613T>G	XP_011515243.1:p.Leu538Arg
XM_011516942.1:c.1613T>G	XP_011515244.1:p.Leu538Arg
XR_242384.2:n.1743T>G
XR_928310.1:n.1743T>G
XR_928311.1:n.1743T>G
XR_928312.1:n.1743T>G
NM_001352890.2:c.1814T>G	NP_001339819.2:p.Leu605Arg
NM_001362798.1:c.1814T>G	NP_001349727.1:p.Leu605Arg
NM_014957.4:c.1613T>G	NP_055772.3:p.Leu538Arg
NR_148197.2:n.1910T>G
XM_005250840.5:c.1658T>G	XP_005250897.3:p.Leu553Arg
XM_005250841.4:c.1658T>G	XP_005250898.3:p.Leu553Arg
XM_005250842.4:c.1580T>G	XP_005250899.1:p.Leu527Arg
XM_011516933.2:c.1814T>G	XP_011515235.2:p.Leu605Arg
XM_011516934.3:c.1814T>G	XP_011515236.2:p.Leu605Arg
XM_011516937.2:c.1814T>G	XP_011515239.2:p.Leu605Arg
XM_011516938.3:c.782T>G	XP_011515240.1:p.Leu261Arg
XM_011516939.3:c.311T>G	XP_011515241.1:p.Leu104Arg
XM_011516940.2:c.311T>G	XP_011515242.1:p.Leu104Arg
XM_011516941.3:c.1814T>G	XP_011515243.2:p.Leu605Arg
XM_017013241.1:c.1613T>G	XP_016868730.1:p.Leu538Arg
XM_017013242.1:c.1070T>G	XP_016868731.1:p.Leu357Arg
XM_017013243.1:c.350T>G	XP_016868732.1:p.Leu117Arg
XR_001745497.2:n.1960T>G
XR_001745498.2:n.1960T>G
XR_928310.3:n.1960T>G
XR_928312.3:n.1960T>G
NM_001352890.3:c.1814T>G MANE Select	NP_001339819.2:p.Leu605Arg
NM_001362798.2:c.1814T>G	NP_001349727.1:p.Leu605Arg
NM_014957.5:c.1613T>G	NP_055772.3:p.Leu538Arg
NR_148197.3:n.1933T>G