Canonical Allele Identifier: CA379597094

Gene: DENND5A

Linked Data

• dbSNP Id: rs1459396293
• gnomAD v2: 11-9163488-T-C
• gnomAD v4: 11-9141941-T-C
• MyVariant Identifiers: chr11:g.9163488T>C (hg19) ; chr11:g.9141941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141941T>C , CM000673.2:g.9141941T>C	GRCh38
NC_000011.9:g.9163488T>C , CM000673.1:g.9163488T>C	GRCh37
NC_000011.8:g.9120064T>C	NCBI36
NG_053019.1:g.128395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3679A>G MANE Select	ENSP00000328524.3:p.Arg1227Gly
ENST00000525784.6:n.1541A>G
ENST00000530780.2:c.*3505A>G	ENSP00000433925.1:n.*3505A>G
ENST00000531747.2:n.3350A>G
ENST00000679446.1:n.3600A>G
ENST00000679458.1:n.5080A>G
ENST00000679460.1:n.4741A>G
ENST00000679568.1:c.3679A>G	ENSP00000505860.1:p.Arg1227Gly
ENST00000679745.1:n.4184A>G
ENST00000679773.1:n.2840A>G
ENST00000679926.1:n.4981A>G
ENST00000679999.1:c.*736A>G	ENSP00000505198.1:n.*736A>G
ENST00000680252.1:c.3346A>G
ENST00000680294.1:c.3472A>G	ENSP00000506113.1:p.Arg1158Gly
ENST00000680358.1:n.2978A>G
ENST00000680470.1:c.*1460A>G	ENSP00000505975.1:n.*1460A>G
ENST00000680554.1:c.*212A>G	ENSP00000505621.1:n.*212A>G
ENST00000680576.1:n.5155A>G
ENST00000680599.1:n.3720A>G
ENST00000680742.1:c.*179+33A>G	ENSP00000505206.1:n.*179+33A>G
ENST00000680791.1:n.2563A>G
ENST00000680885.1:n.5381A>G
ENST00000681158.1:c.3263A>G
ENST00000681203.1:c.3607A>G	ENSP00000506456.1:p.Arg1203Gly
ENST00000681371.1:n.3551A>G
ENST00000681425.1:n.4157A>G
ENST00000681639.1:n.1958A>G
ENST00000328194.7:c.3679A>G	ENSP00000328524.3:p.Arg1227Gly
ENST00000525784.5:c.615A>G
ENST00000527700.5:n.3241A>G
ENST00000528725.5:c.375A>G
ENST00000529977.5:n.1580A>G
ENST00000530044.5:c.3646+33A>G	ENSP00000435866.1:n.3646+33A>G
ENST00000531747.1:c.915A>G
ENST00000533737.5:c.342A>G
NM_001243254.1:c.3646+33A>G	NP_001230183.1:n.3646+33A>G
NM_015213.3:c.3679A>G	NP_056028.2:p.Arg1227Gly
XM_005252832.1:c.3679A>G	XP_005252889.1:p.Arg1227Gly
XM_011519952.1:c.3646+33A>G	XP_011518254.1:n.3646+33A>G
XM_011519953.1:c.1777A>G	XP_011518255.1:p.Arg593Gly
XR_242782.2:n.3861A>G
XR_930851.1:n.3828+33A>G
NM_001348749.1:c.3607A>G	NP_001335678.1:p.Arg1203Gly
NM_001348750.1:c.3391A>G	NP_001335679.1:p.Arg1131Gly
NR_145966.2:n.3853A>G
NM_015213.4:c.3679A>G MANE Select	NP_056028.2:p.Arg1227Gly
NM_001243254.2:c.3646+33A>G	NP_001230183.1:n.3646+33A>G
NM_001348749.2:c.3607A>G	NP_001335678.1:p.Arg1203Gly
NM_001348750.2:c.3391A>G	NP_001335679.1:p.Arg1131Gly