Canonical Allele Identifier: CA597442271
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs1244917330
gnomAD v2: 11-9161187-C-T
gnomAD v4: 11-9139640-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9139640C>T , CM000673.2:g.9139640C>T GRCh38
NC_000011.9:g.9161187C>T , CM000673.1:g.9161187C>T GRCh37
NC_000011.8:g.9117763C>T NCBI36
NG_053019.1:g.130696G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328194.8:c.*31G>A MANE Select ENSP00000328524.3:n.*31G>A
ENST00000525784.6:n.1757G>A
ENST00000530780.2:c.*3721G>A ENSP00000433925.1:n.*3721G>A
ENST00000531747.2:n.3566G>A
ENST00000679446.1:n.5901G>A
ENST00000679458.1:n.5296G>A
ENST00000679460.1:n.4957G>A
ENST00000679568.1:c.*31G>A ENSP00000505860.1:n.*31G>A
ENST00000679745.1:n.4400G>A
ENST00000679773.1:n.3056G>A
ENST00000679926.1:n.5197G>A
ENST00000679999.1:c.*952G>A ENSP00000505198.1:n.*952G>A
ENST00000680252.1:c.3562G>A
ENST00000680294.1:c.*31G>A ENSP00000506113.1:n.*31G>A
ENST00000680358.1:n.3194G>A
ENST00000680470.1:c.*1676G>A ENSP00000505975.1:n.*1676G>A
ENST00000680554.1:c.*428G>A ENSP00000505621.1:n.*428G>A
ENST00000680576.1:n.7456G>A
ENST00000680599.1:n.3936G>A
ENST00000680742.1:c.*394G>A ENSP00000505206.1:n.*394G>A
ENST00000680791.1:n.2779G>A
ENST00000680885.1:n.5597G>A
ENST00000681158.1:c.3479G>A
ENST00000681203.1:c.*31G>A ENSP00000506456.1:n.*31G>A
ENST00000681371.1:n.3767G>A
ENST00000681425.1:n.4373G>A
ENST00000681639.1:n.2174G>A
ENST00000328194.7:c.*31G>A ENSP00000328524.3:n.*31G>A
ENST00000527700.5:n.3457G>A
ENST00000528725.5:c.591G>A
ENST00000529977.5:n.1796G>A
ENST00000530044.5:c.*135G>A ENSP00000435866.1:n.*135G>A
ENST00000533737.5:c.618G>A
NM_001243254.1:c.*135G>A NP_001230183.1:n.*135G>A
NM_015213.3:c.*31G>A NP_056028.2:n.*31G>A
XM_005252832.1:c.*31G>A XP_005252889.1:n.*31G>A
XM_011519953.1:c.*31G>A XP_011518255.1:n.*31G>A
XR_242782.2:n.4077G>A
XR_930851.1:n.4043G>A
NM_001348749.1:c.*31G>A NP_001335678.1:n.*31G>A
NM_001348750.1:c.*31G>A NP_001335679.1:n.*31G>A
NR_145966.2:n.4069G>A
NM_015213.4:c.*31G>A MANE Select NP_056028.2:n.*31G>A
NM_001243254.2:c.*135G>A NP_001230183.1:n.*135G>A
NM_001348749.2:c.*31G>A NP_001335678.1:n.*31G>A
NM_001348750.2:c.*31G>A NP_001335679.1:n.*31G>A