Canonical Allele Identifier: CA217547527
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs553121155
gnomAD v3: 11-9160632-G-A
gnomAD v4: 11-9160632-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9160632G>A , CM000673.2:g.9160632G>A GRCh38
NC_000011.9:g.9182179G>A , CM000673.1:g.9182179G>A GRCh37
NC_000011.8:g.9138755G>A NCBI36
NG_053019.1:g.109704C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.2436+81C>T MANE Select ENSP00000328524.3:n.2436+81C>T
ENST00000530780.2:c.*2262+81C>T ENSP00000433925.1:n.*2262+81C>T
ENST00000679446.1:n.2357+81C>T
ENST00000679458.1:n.3837+81C>T
ENST00000679460.1:n.2225+81C>T
ENST00000679568.1:c.2436+81C>T ENSP00000505860.1:n.2436+81C>T
ENST00000679745.1:n.2225+81C>T
ENST00000679926.1:n.1252+81C>T
ENST00000679999.1:c.2436+81C>T ENSP00000505198.1:n.2436+81C>T
ENST00000680252.1:c.2225+81C>T
ENST00000680294.1:c.2436+81C>T ENSP00000506113.1:n.2436+81C>T
ENST00000680358.1:n.1735+81C>T
ENST00000680470.1:c.*302+81C>T ENSP00000505975.1:n.*302+81C>T
ENST00000680554.1:c.2148+81C>T ENSP00000505621.1:n.2148+81C>T
ENST00000680576.1:n.2225+81C>T
ENST00000680599.1:n.2353+81C>T
ENST00000680742.1:c.2436+81C>T ENSP00000505206.1:n.2436+81C>T
ENST00000680885.1:n.2357+81C>T
ENST00000681158.1:c.2225+81C>T
ENST00000681173.1:n.2225+81C>T
ENST00000681203.1:c.2364+81C>T ENSP00000506456.1:n.2364+81C>T
ENST00000681425.1:n.2357+81C>T
ENST00000328194.7:c.2436+81C>T ENSP00000328524.3:n.2436+81C>T
ENST00000526707.5:c.2364+81C>T ENSP00000436780.1:n.2364+81C>T
ENST00000527700.5:n.1998+81C>T
ENST00000530044.5:c.2436+81C>T ENSP00000435866.1:n.2436+81C>T
NM_001243254.1:c.2436+81C>T NP_001230183.1:n.2436+81C>T
NM_015213.3:c.2436+81C>T NP_056028.2:n.2436+81C>T
XM_005252832.1:c.2436+81C>T XP_005252889.1:n.2436+81C>T
XM_011519952.1:c.2436+81C>T XP_011518254.1:n.2436+81C>T
XM_011519953.1:c.534+81C>T XP_011518255.1:n.534+81C>T
XR_242782.2:n.2701+81C>T
XR_930851.1:n.2701+81C>T
XR_930852.1:n.2701+81C>T
XR_930853.1:n.2550+81C>T
NM_001348749.1:c.2364+81C>T NP_001335678.1:n.2364+81C>T
NM_001348750.1:c.2148+81C>T NP_001335679.1:n.2148+81C>T
NR_145966.2:n.2693+81C>T
NM_015213.4:c.2436+81C>T MANE Select NP_056028.2:n.2436+81C>T
NM_001243254.2:c.2436+81C>T NP_001230183.1:n.2436+81C>T
NM_001348749.2:c.2364+81C>T NP_001335678.1:n.2364+81C>T
NM_001348750.2:c.2148+81C>T NP_001335679.1:n.2148+81C>T