Canonical Allele Identifier: CA379597628

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142010-C-T
• MyVariant Identifiers: chr11:g.9163557C>T (hg19) ; chr11:g.9142010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142010C>T , CM000673.2:g.9142010C>T	GRCh38
NC_000011.9:g.9163557C>T , CM000673.1:g.9163557C>T	GRCh37
NC_000011.8:g.9120133C>T	NCBI36
NG_053019.1:g.128326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3610G>A MANE Select	ENSP00000328524.3:p.Ala1204Thr
ENST00000525784.6:n.1472G>A
ENST00000530780.2:c.*3436G>A	ENSP00000433925.1:n.*3436G>A
ENST00000531747.2:n.3281G>A
ENST00000679446.1:n.3531G>A
ENST00000679458.1:n.5011G>A
ENST00000679460.1:n.4672G>A
ENST00000679568.1:c.3610G>A	ENSP00000505860.1:p.Ala1204Thr
ENST00000679745.1:n.4115G>A
ENST00000679773.1:n.2771G>A
ENST00000679926.1:n.4912G>A
ENST00000679999.1:c.*667G>A	ENSP00000505198.1:n.*667G>A
ENST00000680252.1:c.3277G>A
ENST00000680294.1:c.3403G>A	ENSP00000506113.1:p.Ala1135Thr
ENST00000680358.1:n.2909G>A
ENST00000680470.1:c.*1391G>A	ENSP00000505975.1:n.*1391G>A
ENST00000680554.1:c.*143G>A	ENSP00000505621.1:n.*143G>A
ENST00000680576.1:n.5086G>A
ENST00000680599.1:n.3651G>A
ENST00000680742.1:c.*143G>A	ENSP00000505206.1:n.*143G>A
ENST00000680791.1:n.2494G>A
ENST00000680885.1:n.5312G>A
ENST00000681158.1:c.3194G>A
ENST00000681203.1:c.3538G>A	ENSP00000506456.1:p.Ala1180Thr
ENST00000681371.1:n.3482G>A
ENST00000681425.1:n.4088G>A
ENST00000681639.1:n.1889G>A
ENST00000328194.7:c.3610G>A	ENSP00000328524.3:p.Ala1204Thr
ENST00000525784.5:c.546G>A
ENST00000527700.5:n.3172G>A
ENST00000528725.5:c.306G>A
ENST00000529977.5:n.1511G>A
ENST00000530044.5:c.3610G>A	ENSP00000435866.1:p.Ala1204Thr
ENST00000531747.1:c.846G>A
ENST00000533737.5:c.273G>A
NM_001243254.1:c.3610G>A	NP_001230183.1:p.Ala1204Thr
NM_015213.3:c.3610G>A	NP_056028.2:p.Ala1204Thr
XM_005252832.1:c.3610G>A	XP_005252889.1:p.Ala1204Thr
XM_011519952.1:c.3610G>A	XP_011518254.1:p.Ala1204Thr
XM_011519953.1:c.1708G>A	XP_011518255.1:p.Ala570Thr
XR_242782.2:n.3792G>A
XR_930851.1:n.3792G>A
NM_001348749.1:c.3538G>A	NP_001335678.1:p.Ala1180Thr
NM_001348750.1:c.3322G>A	NP_001335679.1:p.Ala1108Thr
NR_145966.2:n.3784G>A
NM_015213.4:c.3610G>A MANE Select	NP_056028.2:p.Ala1204Thr
NM_001243254.2:c.3610G>A	NP_001230183.1:p.Ala1204Thr
NM_001348749.2:c.3538G>A	NP_001335678.1:p.Ala1180Thr
NM_001348750.2:c.3322G>A	NP_001335679.1:p.Ala1108Thr