Canonical Allele Identifier: CA217536139
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs887879137
gnomAD v3: 11-9141700-T-A
gnomAD v4: 11-9141700-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141700T>A , CM000673.2:g.9141700T>A GRCh38
NC_000011.9:g.9163247T>A , CM000673.1:g.9163247T>A GRCh37
NC_000011.8:g.9119823T>A NCBI36
NG_053019.1:g.128636A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3680+240A>T MANE Select ENSP00000328524.3:n.3680+240A>T
ENST00000525784.6:n.1542+240A>T
ENST00000530780.2:c.*3506+240A>T ENSP00000433925.1:n.*3506+240A>T
ENST00000531747.2:n.3351+240A>T
ENST00000679446.1:n.3841A>T
ENST00000679458.1:n.5081+240A>T
ENST00000679460.1:n.4742+240A>T
ENST00000679568.1:c.3680+240A>T ENSP00000505860.1:n.3680+240A>T
ENST00000679745.1:n.4185+240A>T
ENST00000679773.1:n.2841+240A>T
ENST00000679926.1:n.4982+240A>T
ENST00000679999.1:c.*737+240A>T ENSP00000505198.1:n.*737+240A>T
ENST00000680252.1:c.3347+240A>T
ENST00000680294.1:c.3473+240A>T ENSP00000506113.1:n.3473+240A>T
ENST00000680358.1:n.2979+240A>T
ENST00000680470.1:c.*1461+240A>T ENSP00000505975.1:n.*1461+240A>T
ENST00000680554.1:c.*213+240A>T ENSP00000505621.1:n.*213+240A>T
ENST00000680576.1:n.5396A>T
ENST00000680599.1:n.3721+240A>T
ENST00000680742.1:c.*179+274A>T ENSP00000505206.1:n.*179+274A>T
ENST00000680791.1:n.2564+240A>T
ENST00000680885.1:n.5382+240A>T
ENST00000681158.1:c.3264+240A>T
ENST00000681203.1:c.3608+240A>T ENSP00000506456.1:n.3608+240A>T
ENST00000681371.1:n.3552+240A>T
ENST00000681425.1:n.4158+240A>T
ENST00000681639.1:n.1959+240A>T
ENST00000328194.7:c.3680+240A>T ENSP00000328524.3:n.3680+240A>T
ENST00000525784.5:c.616+240A>T
ENST00000527700.5:n.3242+240A>T
ENST00000528725.5:c.376+240A>T
ENST00000529977.5:n.1581+240A>T
ENST00000530044.5:c.3646+274A>T ENSP00000435866.1:n.3646+274A>T
ENST00000533737.5:c.343+240A>T
NM_001243254.1:c.3646+274A>T NP_001230183.1:n.3646+274A>T
NM_015213.3:c.3680+240A>T NP_056028.2:n.3680+240A>T
XM_005252832.1:c.3680+240A>T XP_005252889.1:n.3680+240A>T
XM_011519952.1:c.3646+274A>T XP_011518254.1:n.3646+274A>T
XM_011519953.1:c.1778+240A>T XP_011518255.1:n.1778+240A>T
XR_242782.2:n.3862+240A>T
XR_930851.1:n.3828+274A>T
NM_001348749.1:c.3608+240A>T NP_001335678.1:n.3608+240A>T
NM_001348750.1:c.3392+240A>T NP_001335679.1:n.3392+240A>T
NR_145966.2:n.3854+240A>T
NM_015213.4:c.3680+240A>T MANE Select NP_056028.2:n.3680+240A>T
NM_001243254.2:c.3646+274A>T NP_001230183.1:n.3646+274A>T
NM_001348749.2:c.3608+240A>T NP_001335678.1:n.3608+240A>T
NM_001348750.2:c.3392+240A>T NP_001335679.1:n.3392+240A>T