Canonical Allele Identifier: CA5877833
Gene: DENND5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2412266
ClinVar RCV Id: RCV002784988
dbSNP Id: rs763501089
gnomAD v2: 11-9225831-G-C
gnomAD v3: 11-9204284-G-C
gnomAD v4: 11-9204284-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204284G>C , CM000673.2:g.9204284G>C GRCh38
NC_000011.9:g.9225831G>C , CM000673.1:g.9225831G>C GRCh37
NC_000011.8:g.9182407G>C NCBI36
NG_053019.1:g.66052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.325C>G MANE Select ENSP00000328524.3:p.Gln109Glu
ENST00000530780.2:c.*151C>G ENSP00000433925.1:n.*151C>G
ENST00000530867.2:n.114C>G
ENST00000532696.2:n.248C>G
ENST00000679446.1:n.246C>G
ENST00000679460.1:n.114C>G
ENST00000679568.1:c.325C>G ENSP00000505860.1:p.Gln109Glu
ENST00000679745.1:n.114C>G
ENST00000679999.1:c.325C>G ENSP00000505198.1:p.Gln109Glu
ENST00000680252.1:c.114C>G
ENST00000680294.1:c.325C>G ENSP00000506113.1:p.Gln109Glu
ENST00000680470.1:c.325C>G ENSP00000505975.1:p.Gln109Glu
ENST00000680554.1:c.37C>G ENSP00000505621.1:p.Gln13Glu
ENST00000680576.1:n.114C>G
ENST00000680599.1:n.242C>G
ENST00000680742.1:c.325C>G ENSP00000505206.1:p.Gln109Glu
ENST00000680885.1:n.246C>G
ENST00000681158.1:c.114C>G
ENST00000681173.1:n.114C>G
ENST00000681203.1:c.253C>G ENSP00000506456.1:p.Gln85Glu
ENST00000681425.1:n.246C>G
ENST00000681915.1:n.114C>G
ENST00000328194.7:c.325C>G ENSP00000328524.3:p.Gln109Glu
ENST00000526707.5:c.253C>G ENSP00000436780.1:p.Gln85Glu
ENST00000530044.5:c.325C>G ENSP00000435866.1:p.Gln109Glu
ENST00000530780.1:c.*151C>G ENSP00000433925.1:n.*151C>G
ENST00000532696.1:n.80C>G
NM_001243254.1:c.325C>G NP_001230183.1:p.Gln109Glu
NM_015213.3:c.325C>G NP_056028.2:p.Gln109Glu
XM_005252832.1:c.325C>G XP_005252889.1:p.Gln109Glu
XM_011519952.1:c.325C>G XP_011518254.1:p.Gln109Glu
XR_242782.2:n.590C>G
XR_930851.1:n.590C>G
XR_930852.1:n.590C>G
XR_930853.1:n.590C>G
NM_001348749.1:c.253C>G NP_001335678.1:p.Gln85Glu
NM_001348750.1:c.37C>G NP_001335679.1:p.Gln13Glu
NR_145966.2:n.582C>G
NM_015213.4:c.325C>G MANE Select NP_056028.2:p.Gln109Glu
NM_001243254.2:c.325C>G NP_001230183.1:p.Gln109Glu
NM_001348749.2:c.253C>G NP_001335678.1:p.Gln85Glu
NM_001348750.2:c.37C>G NP_001335679.1:p.Gln13Glu