Canonical Allele Identifier: CA217547590
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs144989034
gnomAD v3: 11-9160794-T-C
gnomAD v4: 11-9160794-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9160794T>C , CM000673.2:g.9160794T>C GRCh38
NC_000011.9:g.9182341T>C , CM000673.1:g.9182341T>C GRCh37
NC_000011.8:g.9138917T>C NCBI36
NG_053019.1:g.109542A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.2355A>G MANE Select ENSP00000328524.3:p.Thr785=
ENST00000530780.2:c.*2181A>G ENSP00000433925.1:n.*2181A>G
ENST00000679446.1:n.2276A>G
ENST00000679458.1:n.3756A>G
ENST00000679460.1:n.2144A>G
ENST00000679568.1:c.2355A>G ENSP00000505860.1:p.Thr785=
ENST00000679745.1:n.2144A>G
ENST00000679926.1:n.1171A>G
ENST00000679999.1:c.2355A>G ENSP00000505198.1:p.Thr785=
ENST00000680252.1:c.2144A>G
ENST00000680294.1:c.2355A>G ENSP00000506113.1:p.Thr785=
ENST00000680358.1:n.1654A>G
ENST00000680470.1:c.*221A>G ENSP00000505975.1:n.*221A>G
ENST00000680554.1:c.2067A>G ENSP00000505621.1:p.Thr689=
ENST00000680576.1:n.2144A>G
ENST00000680599.1:n.2272A>G
ENST00000680742.1:c.2355A>G ENSP00000505206.1:p.Thr785=
ENST00000680885.1:n.2276A>G
ENST00000681158.1:c.2144A>G
ENST00000681173.1:n.2144A>G
ENST00000681203.1:c.2283A>G ENSP00000506456.1:p.Thr761=
ENST00000681425.1:n.2276A>G
ENST00000328194.7:c.2355A>G ENSP00000328524.3:p.Thr785=
ENST00000526707.5:c.2283A>G ENSP00000436780.1:p.Thr761=
ENST00000527700.5:n.1917A>G
ENST00000530044.5:c.2355A>G ENSP00000435866.1:p.Thr785=
NM_001243254.1:c.2355A>G NP_001230183.1:p.Thr785=
NM_015213.3:c.2355A>G NP_056028.2:p.Thr785=
XM_005252832.1:c.2355A>G XP_005252889.1:p.Thr785=
XM_011519952.1:c.2355A>G XP_011518254.1:p.Thr785=
XM_011519953.1:c.453A>G XP_011518255.1:p.Thr151=
XR_242782.2:n.2620A>G
XR_930851.1:n.2620A>G
XR_930852.1:n.2620A>G
XR_930853.1:n.2469A>G
NM_001348749.1:c.2283A>G NP_001335678.1:p.Thr761=
NM_001348750.1:c.2067A>G NP_001335679.1:p.Thr689=
NR_145966.2:n.2612A>G
NM_015213.4:c.2355A>G MANE Select NP_056028.2:p.Thr785=
NM_001243254.2:c.2355A>G NP_001230183.1:p.Thr785=
NM_001348749.2:c.2283A>G NP_001335678.1:p.Thr761=
NM_001348750.2:c.2067A>G NP_001335679.1:p.Thr689=