Canonical Allele Identifier: CA217536284
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs937236945
gnomAD v2: 11-9163530-C-T
gnomAD v3: 11-9141983-C-T
gnomAD v4: 11-9141983-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141983C>T , CM000673.2:g.9141983C>T GRCh38
NC_000011.9:g.9163530C>T , CM000673.1:g.9163530C>T GRCh37
NC_000011.8:g.9120106C>T NCBI36
NG_053019.1:g.128353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3637G>A MANE Select ENSP00000328524.3:p.Gly1213Ser
ENST00000525784.6:n.1499G>A
ENST00000530780.2:c.*3463G>A ENSP00000433925.1:n.*3463G>A
ENST00000531747.2:n.3308G>A
ENST00000679446.1:n.3558G>A
ENST00000679458.1:n.5038G>A
ENST00000679460.1:n.4699G>A
ENST00000679568.1:c.3637G>A ENSP00000505860.1:p.Gly1213Ser
ENST00000679745.1:n.4142G>A
ENST00000679773.1:n.2798G>A
ENST00000679926.1:n.4939G>A
ENST00000679999.1:c.*694G>A ENSP00000505198.1:n.*694G>A
ENST00000680252.1:c.3304G>A
ENST00000680294.1:c.3430G>A ENSP00000506113.1:p.Gly1144Ser
ENST00000680358.1:n.2936G>A
ENST00000680470.1:c.*1418G>A ENSP00000505975.1:n.*1418G>A
ENST00000680554.1:c.*170G>A ENSP00000505621.1:n.*170G>A
ENST00000680576.1:n.5113G>A
ENST00000680599.1:n.3678G>A
ENST00000680742.1:c.*170G>A ENSP00000505206.1:n.*170G>A
ENST00000680791.1:n.2521G>A
ENST00000680885.1:n.5339G>A
ENST00000681158.1:c.3221G>A
ENST00000681203.1:c.3565G>A ENSP00000506456.1:p.Gly1189Ser
ENST00000681371.1:n.3509G>A
ENST00000681425.1:n.4115G>A
ENST00000681639.1:n.1916G>A
ENST00000328194.7:c.3637G>A ENSP00000328524.3:p.Gly1213Ser
ENST00000525784.5:c.573G>A
ENST00000527700.5:n.3199G>A
ENST00000528725.5:c.333G>A
ENST00000529977.5:n.1538G>A
ENST00000530044.5:c.3637G>A ENSP00000435866.1:p.Gly1213Ser
ENST00000531747.1:c.873G>A
ENST00000533737.5:c.300G>A
NM_001243254.1:c.3637G>A NP_001230183.1:p.Gly1213Ser
NM_015213.3:c.3637G>A NP_056028.2:p.Gly1213Ser
XM_005252832.1:c.3637G>A XP_005252889.1:p.Gly1213Ser
XM_011519952.1:c.3637G>A XP_011518254.1:p.Gly1213Ser
XM_011519953.1:c.1735G>A XP_011518255.1:p.Gly579Ser
XR_242782.2:n.3819G>A
XR_930851.1:n.3819G>A
NM_001348749.1:c.3565G>A NP_001335678.1:p.Gly1189Ser
NM_001348750.1:c.3349G>A NP_001335679.1:p.Gly1117Ser
NR_145966.2:n.3811G>A
NM_015213.4:c.3637G>A MANE Select NP_056028.2:p.Gly1213Ser
NM_001243254.2:c.3637G>A NP_001230183.1:p.Gly1213Ser
NM_001348749.2:c.3565G>A NP_001335678.1:p.Gly1189Ser
NM_001348750.2:c.3349G>A NP_001335679.1:p.Gly1117Ser