Canonical Allele Identifier: CA379597625
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs1303291533
gnomAD v2: 11-9163557-C-A
gnomAD v3: 11-9142010-C-A
gnomAD v4: 11-9142010-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3610G>T MANE Select ENSP00000328524.3:p.Ala1204Ser
ENST00000525784.6:n.1472G>T
ENST00000530780.2:c.*3436G>T ENSP00000433925.1:n.*3436G>T
ENST00000531747.2:n.3281G>T
ENST00000679446.1:n.3531G>T
ENST00000679458.1:n.5011G>T
ENST00000679460.1:n.4672G>T
ENST00000679568.1:c.3610G>T ENSP00000505860.1:p.Ala1204Ser
ENST00000679745.1:n.4115G>T
ENST00000679773.1:n.2771G>T
ENST00000679926.1:n.4912G>T
ENST00000679999.1:c.*667G>T ENSP00000505198.1:n.*667G>T
ENST00000680252.1:c.3277G>T
ENST00000680294.1:c.3403G>T ENSP00000506113.1:p.Ala1135Ser
ENST00000680358.1:n.2909G>T
ENST00000680470.1:c.*1391G>T ENSP00000505975.1:n.*1391G>T
ENST00000680554.1:c.*143G>T ENSP00000505621.1:n.*143G>T
ENST00000680576.1:n.5086G>T
ENST00000680599.1:n.3651G>T
ENST00000680742.1:c.*143G>T ENSP00000505206.1:n.*143G>T
ENST00000680791.1:n.2494G>T
ENST00000680885.1:n.5312G>T
ENST00000681158.1:c.3194G>T
ENST00000681203.1:c.3538G>T ENSP00000506456.1:p.Ala1180Ser
ENST00000681371.1:n.3482G>T
ENST00000681425.1:n.4088G>T
ENST00000681639.1:n.1889G>T
ENST00000328194.7:c.3610G>T ENSP00000328524.3:p.Ala1204Ser
ENST00000525784.5:c.546G>T
ENST00000527700.5:n.3172G>T
ENST00000528725.5:c.306G>T
ENST00000529977.5:n.1511G>T
ENST00000530044.5:c.3610G>T ENSP00000435866.1:p.Ala1204Ser
ENST00000531747.1:c.846G>T
ENST00000533737.5:c.273G>T
NM_001243254.1:c.3610G>T NP_001230183.1:p.Ala1204Ser
NM_015213.3:c.3610G>T NP_056028.2:p.Ala1204Ser
XM_005252832.1:c.3610G>T XP_005252889.1:p.Ala1204Ser
XM_011519952.1:c.3610G>T XP_011518254.1:p.Ala1204Ser
XM_011519953.1:c.1708G>T XP_011518255.1:p.Ala570Ser
XR_242782.2:n.3792G>T
XR_930851.1:n.3792G>T
NM_001348749.1:c.3538G>T NP_001335678.1:p.Ala1180Ser
NM_001348750.1:c.3322G>T NP_001335679.1:p.Ala1108Ser
NR_145966.2:n.3784G>T
NM_015213.4:c.3610G>T MANE Select NP_056028.2:p.Ala1204Ser
NM_001243254.2:c.3610G>T NP_001230183.1:p.Ala1204Ser
NM_001348749.2:c.3538G>T NP_001335678.1:p.Ala1180Ser
NM_001348750.2:c.3322G>T NP_001335679.1:p.Ala1108Ser