Canonical Allele Identifier: CA379597645

Gene: DENND5A

Linked Data

• dbSNP Id: rs1419410432
• gnomAD v3: 11-9142013-T-C
• gnomAD v4: 11-9142013-T-C
• MyVariant Identifiers: chr11:g.9163560T>C (hg19) ; chr11:g.9142013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142013T>C , CM000673.2:g.9142013T>C	GRCh38
NC_000011.9:g.9163560T>C , CM000673.1:g.9163560T>C	GRCh37
NC_000011.8:g.9120136T>C	NCBI36
NG_053019.1:g.128323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3607A>G MANE Select	ENSP00000328524.3:p.Thr1203Ala
ENST00000525784.6:n.1469A>G
ENST00000530780.2:c.*3433A>G	ENSP00000433925.1:n.*3433A>G
ENST00000531747.2:n.3278A>G
ENST00000679446.1:n.3528A>G
ENST00000679458.1:n.5008A>G
ENST00000679460.1:n.4669A>G
ENST00000679568.1:c.3607A>G	ENSP00000505860.1:p.Thr1203Ala
ENST00000679745.1:n.4112A>G
ENST00000679773.1:n.2768A>G
ENST00000679926.1:n.4909A>G
ENST00000679999.1:c.*664A>G	ENSP00000505198.1:n.*664A>G
ENST00000680252.1:c.3274A>G
ENST00000680294.1:c.3400A>G	ENSP00000506113.1:p.Thr1134Ala
ENST00000680358.1:n.2906A>G
ENST00000680470.1:c.*1388A>G	ENSP00000505975.1:n.*1388A>G
ENST00000680554.1:c.*140A>G	ENSP00000505621.1:n.*140A>G
ENST00000680576.1:n.5083A>G
ENST00000680599.1:n.3648A>G
ENST00000680742.1:c.*140A>G	ENSP00000505206.1:n.*140A>G
ENST00000680791.1:n.2491A>G
ENST00000680885.1:n.5309A>G
ENST00000681158.1:c.3191A>G
ENST00000681203.1:c.3535A>G	ENSP00000506456.1:p.Thr1179Ala
ENST00000681371.1:n.3479A>G
ENST00000681425.1:n.4085A>G
ENST00000681639.1:n.1886A>G
ENST00000328194.7:c.3607A>G	ENSP00000328524.3:p.Thr1203Ala
ENST00000525784.5:c.543A>G
ENST00000527700.5:n.3169A>G
ENST00000528725.5:c.303A>G
ENST00000529977.5:n.1508A>G
ENST00000530044.5:c.3607A>G	ENSP00000435866.1:p.Thr1203Ala
ENST00000531747.1:c.843A>G
ENST00000533737.5:c.270A>G
NM_001243254.1:c.3607A>G	NP_001230183.1:p.Thr1203Ala
NM_015213.3:c.3607A>G	NP_056028.2:p.Thr1203Ala
XM_005252832.1:c.3607A>G	XP_005252889.1:p.Thr1203Ala
XM_011519952.1:c.3607A>G	XP_011518254.1:p.Thr1203Ala
XM_011519953.1:c.1705A>G	XP_011518255.1:p.Thr569Ala
XR_242782.2:n.3789A>G
XR_930851.1:n.3789A>G
NM_001348749.1:c.3535A>G	NP_001335678.1:p.Thr1179Ala
NM_001348750.1:c.3319A>G	NP_001335679.1:p.Thr1107Ala
NR_145966.2:n.3781A>G
NM_015213.4:c.3607A>G MANE Select	NP_056028.2:p.Thr1203Ala
NM_001243254.2:c.3607A>G	NP_001230183.1:p.Thr1203Ala
NM_001348749.2:c.3535A>G	NP_001335678.1:p.Thr1179Ala
NM_001348750.2:c.3319A>G	NP_001335679.1:p.Thr1107Ala