Canonical Allele Identifier: CA217536302

Gene: DENND5A

Linked Data

• dbSNP Id: rs138580044
• gnomAD v3: 11-9142021-C-T
• gnomAD v4: 11-9142021-C-T
• MyVariant Identifiers: chr11:g.9163568C>T (hg19) ; chr11:g.9142021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142021C>T , CM000673.2:g.9142021C>T	GRCh38
NC_000011.9:g.9163568C>T , CM000673.1:g.9163568C>T	GRCh37
NC_000011.8:g.9120144C>T	NCBI36
NG_053019.1:g.128315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3599G>A MANE Select	ENSP00000328524.3:p.Arg1200Gln
ENST00000525784.6:n.1461G>A
ENST00000530780.2:c.*3425G>A	ENSP00000433925.1:n.*3425G>A
ENST00000531747.2:n.3270G>A
ENST00000679446.1:n.3520G>A
ENST00000679458.1:n.5000G>A
ENST00000679460.1:n.4661G>A
ENST00000679568.1:c.3599G>A	ENSP00000505860.1:p.Arg1200Gln
ENST00000679745.1:n.4104G>A
ENST00000679773.1:n.2760G>A
ENST00000679926.1:n.4901G>A
ENST00000679999.1:c.*656G>A	ENSP00000505198.1:n.*656G>A
ENST00000680252.1:c.3266G>A
ENST00000680294.1:c.3392G>A	ENSP00000506113.1:p.Arg1131Gln
ENST00000680358.1:n.2898G>A
ENST00000680470.1:c.*1380G>A	ENSP00000505975.1:n.*1380G>A
ENST00000680554.1:c.*132G>A	ENSP00000505621.1:n.*132G>A
ENST00000680576.1:n.5075G>A
ENST00000680599.1:n.3640G>A
ENST00000680742.1:c.*132G>A	ENSP00000505206.1:n.*132G>A
ENST00000680791.1:n.2483G>A
ENST00000680885.1:n.5301G>A
ENST00000681158.1:c.3183G>A
ENST00000681203.1:c.3527G>A	ENSP00000506456.1:p.Arg1176Gln
ENST00000681371.1:n.3471G>A
ENST00000681425.1:n.4077G>A
ENST00000681639.1:n.1878G>A
ENST00000328194.7:c.3599G>A	ENSP00000328524.3:p.Arg1200Gln
ENST00000525784.5:c.535G>A
ENST00000527700.5:n.3161G>A
ENST00000528725.5:c.295G>A
ENST00000529977.5:n.1500G>A
ENST00000530044.5:c.3599G>A	ENSP00000435866.1:p.Arg1200Gln
ENST00000531747.1:c.835G>A
ENST00000533737.5:c.262G>A
NM_001243254.1:c.3599G>A	NP_001230183.1:p.Arg1200Gln
NM_015213.3:c.3599G>A	NP_056028.2:p.Arg1200Gln
XM_005252832.1:c.3599G>A	XP_005252889.1:p.Arg1200Gln
XM_011519952.1:c.3599G>A	XP_011518254.1:p.Arg1200Gln
XM_011519953.1:c.1697G>A	XP_011518255.1:p.Arg566Gln
XR_242782.2:n.3781G>A
XR_930851.1:n.3781G>A
NM_001348749.1:c.3527G>A	NP_001335678.1:p.Arg1176Gln
NM_001348750.1:c.3311G>A	NP_001335679.1:p.Arg1104Gln
NR_145966.2:n.3773G>A
NM_015213.4:c.3599G>A MANE Select	NP_056028.2:p.Arg1200Gln
NM_001243254.2:c.3599G>A	NP_001230183.1:p.Arg1200Gln
NM_001348749.2:c.3527G>A	NP_001335678.1:p.Arg1176Gln
NM_001348750.2:c.3311G>A	NP_001335679.1:p.Arg1104Gln