Canonical Allele Identifier: CA5877803
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs554233781
gnomAD v2: 11-9225651-C-T
gnomAD v3: 11-9204104-C-T
gnomAD v4: 11-9204104-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204104C>T , CM000673.2:g.9204104C>T GRCh38
NC_000011.9:g.9225651C>T , CM000673.1:g.9225651C>T GRCh37
NC_000011.8:g.9182227C>T NCBI36
NG_053019.1:g.66232G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.505G>A MANE Select ENSP00000328524.3:p.Ala169Thr
ENST00000530780.2:c.*331G>A ENSP00000433925.1:n.*331G>A
ENST00000530867.2:n.294G>A
ENST00000532696.2:n.428G>A
ENST00000679446.1:n.426G>A
ENST00000679460.1:n.294G>A
ENST00000679568.1:c.505G>A ENSP00000505860.1:p.Ala169Thr
ENST00000679745.1:n.294G>A
ENST00000679999.1:c.505G>A ENSP00000505198.1:p.Ala169Thr
ENST00000680252.1:c.294G>A
ENST00000680294.1:c.505G>A ENSP00000506113.1:p.Ala169Thr
ENST00000680470.1:c.505G>A ENSP00000505975.1:p.Ala169Thr
ENST00000680554.1:c.217G>A ENSP00000505621.1:p.Ala73Thr
ENST00000680576.1:n.294G>A
ENST00000680599.1:n.422G>A
ENST00000680742.1:c.505G>A ENSP00000505206.1:p.Ala169Thr
ENST00000680885.1:n.426G>A
ENST00000681158.1:c.294G>A
ENST00000681173.1:n.294G>A
ENST00000681203.1:c.433G>A ENSP00000506456.1:p.Ala145Thr
ENST00000681425.1:n.426G>A
ENST00000681915.1:n.294G>A
ENST00000328194.7:c.505G>A ENSP00000328524.3:p.Ala169Thr
ENST00000526707.5:c.433G>A ENSP00000436780.1:p.Ala145Thr
ENST00000530044.5:c.505G>A ENSP00000435866.1:p.Ala169Thr
ENST00000530780.1:c.*331G>A ENSP00000433925.1:n.*331G>A
ENST00000532696.1:n.260G>A
NM_001243254.1:c.505G>A NP_001230183.1:p.Ala169Thr
NM_015213.3:c.505G>A NP_056028.2:p.Ala169Thr
XM_005252832.1:c.505G>A XP_005252889.1:p.Ala169Thr
XM_011519952.1:c.505G>A XP_011518254.1:p.Ala169Thr
XR_242782.2:n.770G>A
XR_930851.1:n.770G>A
XR_930852.1:n.770G>A
XR_930853.1:n.770G>A
NM_001348749.1:c.433G>A NP_001335678.1:p.Ala145Thr
NM_001348750.1:c.217G>A NP_001335679.1:p.Ala73Thr
NR_145966.2:n.762G>A
NM_015213.4:c.505G>A MANE Select NP_056028.2:p.Ala169Thr
NM_001243254.2:c.505G>A NP_001230183.1:p.Ala169Thr
NM_001348749.2:c.433G>A NP_001335678.1:p.Ala145Thr
NM_001348750.2:c.217G>A NP_001335679.1:p.Ala73Thr