Canonical Allele Identifier: CA16044345
Gene: DENND5A HGNC NCBI

Linked Data

ClinVar Variation Id: 375553
ClinVar RCV Id: RCV000416977
dbSNP Id: rs1057519564
gnomAD v2: 11-9163538-C-T
gnomAD v3: 11-9141991-C-T
gnomAD v4: 11-9141991-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141991C>T , CM000673.2:g.9141991C>T GRCh38
NC_000011.9:g.9163538C>T , CM000673.1:g.9163538C>T GRCh37
NC_000011.8:g.9120114C>T NCBI36
NG_053019.1:g.128345G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328194.8:c.3629G>A MANE Select ENSP00000328524.3:p.Arg1210Gln
ENST00000525784.6:n.1491G>A
ENST00000530780.2:c.*3455G>A ENSP00000433925.1:n.*3455G>A
ENST00000531747.2:n.3300G>A
ENST00000679446.1:n.3550G>A
ENST00000679458.1:n.5030G>A
ENST00000679460.1:n.4691G>A
ENST00000679568.1:c.3629G>A ENSP00000505860.1:p.Arg1210Gln
ENST00000679745.1:n.4134G>A
ENST00000679773.1:n.2790G>A
ENST00000679926.1:n.4931G>A
ENST00000679999.1:c.*686G>A ENSP00000505198.1:n.*686G>A
ENST00000680252.1:c.3296G>A
ENST00000680294.1:c.3422G>A ENSP00000506113.1:p.Arg1141Gln
ENST00000680358.1:n.2928G>A
ENST00000680470.1:c.*1410G>A ENSP00000505975.1:n.*1410G>A
ENST00000680554.1:c.*162G>A ENSP00000505621.1:n.*162G>A
ENST00000680576.1:n.5105G>A
ENST00000680599.1:n.3670G>A
ENST00000680742.1:c.*162G>A ENSP00000505206.1:n.*162G>A
ENST00000680791.1:n.2513G>A
ENST00000680885.1:n.5331G>A
ENST00000681158.1:c.3213G>A
ENST00000681203.1:c.3557G>A ENSP00000506456.1:p.Arg1186Gln
ENST00000681371.1:n.3501G>A
ENST00000681425.1:n.4107G>A
ENST00000681639.1:n.1908G>A
ENST00000328194.7:c.3629G>A ENSP00000328524.3:p.Arg1210Gln
ENST00000525784.5:c.565G>A
ENST00000527700.5:n.3191G>A
ENST00000528725.5:c.325G>A
ENST00000529977.5:n.1530G>A
ENST00000530044.5:c.3629G>A ENSP00000435866.1:p.Arg1210Gln
ENST00000531747.1:c.865G>A
ENST00000533737.5:c.292G>A
NM_001243254.1:c.3629G>A NP_001230183.1:p.Arg1210Gln
NM_015213.3:c.3629G>A NP_056028.2:p.Arg1210Gln
XM_005252832.1:c.3629G>A XP_005252889.1:p.Arg1210Gln
XM_011519952.1:c.3629G>A XP_011518254.1:p.Arg1210Gln
XM_011519953.1:c.1727G>A XP_011518255.1:p.Arg576Gln
XR_242782.2:n.3811G>A
XR_930851.1:n.3811G>A
NM_001348749.1:c.3557G>A NP_001335678.1:p.Arg1186Gln
NM_001348750.1:c.3341G>A NP_001335679.1:p.Arg1114Gln
NR_145966.2:n.3803G>A
NM_015213.4:c.3629G>A MANE Select NP_056028.2:p.Arg1210Gln
NM_001243254.2:c.3629G>A NP_001230183.1:p.Arg1210Gln
NM_001348749.2:c.3557G>A NP_001335678.1:p.Arg1186Gln
NM_001348750.2:c.3341G>A NP_001335679.1:p.Arg1114Gln