Canonical Allele Identifier: CA217536237
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs549038756
gnomAD v3: 11-9141831-C-G
gnomAD v4: 11-9141831-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141831C>G , CM000673.2:g.9141831C>G GRCh38
NC_000011.9:g.9163378C>G , CM000673.1:g.9163378C>G GRCh37
NC_000011.8:g.9119954C>G NCBI36
NG_053019.1:g.128505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3680+109G>C MANE Select ENSP00000328524.3:n.3680+109G>C
ENST00000525784.6:n.1542+109G>C
ENST00000530780.2:c.*3506+109G>C ENSP00000433925.1:n.*3506+109G>C
ENST00000531747.2:n.3351+109G>C
ENST00000679446.1:n.3710G>C
ENST00000679458.1:n.5081+109G>C
ENST00000679460.1:n.4742+109G>C
ENST00000679568.1:c.3680+109G>C ENSP00000505860.1:n.3680+109G>C
ENST00000679745.1:n.4185+109G>C
ENST00000679773.1:n.2841+109G>C
ENST00000679926.1:n.4982+109G>C
ENST00000679999.1:c.*737+109G>C ENSP00000505198.1:n.*737+109G>C
ENST00000680252.1:c.3347+109G>C
ENST00000680294.1:c.3473+109G>C ENSP00000506113.1:n.3473+109G>C
ENST00000680358.1:n.2979+109G>C
ENST00000680470.1:c.*1461+109G>C ENSP00000505975.1:n.*1461+109G>C
ENST00000680554.1:c.*213+109G>C ENSP00000505621.1:n.*213+109G>C
ENST00000680576.1:n.5265G>C
ENST00000680599.1:n.3721+109G>C
ENST00000680742.1:c.*179+143G>C ENSP00000505206.1:n.*179+143G>C
ENST00000680791.1:n.2564+109G>C
ENST00000680885.1:n.5382+109G>C
ENST00000681158.1:c.3264+109G>C
ENST00000681203.1:c.3608+109G>C ENSP00000506456.1:n.3608+109G>C
ENST00000681371.1:n.3552+109G>C
ENST00000681425.1:n.4158+109G>C
ENST00000681639.1:n.1959+109G>C
ENST00000328194.7:c.3680+109G>C ENSP00000328524.3:n.3680+109G>C
ENST00000525784.5:c.616+109G>C
ENST00000527700.5:n.3242+109G>C
ENST00000528725.5:c.376+109G>C
ENST00000529977.5:n.1581+109G>C
ENST00000530044.5:c.3646+143G>C ENSP00000435866.1:n.3646+143G>C
ENST00000533737.5:c.343+109G>C
NM_001243254.1:c.3646+143G>C NP_001230183.1:n.3646+143G>C
NM_015213.3:c.3680+109G>C NP_056028.2:n.3680+109G>C
XM_005252832.1:c.3680+109G>C XP_005252889.1:n.3680+109G>C
XM_011519952.1:c.3646+143G>C XP_011518254.1:n.3646+143G>C
XM_011519953.1:c.1778+109G>C XP_011518255.1:n.1778+109G>C
XR_242782.2:n.3862+109G>C
XR_930851.1:n.3828+143G>C
NM_001348749.1:c.3608+109G>C NP_001335678.1:n.3608+109G>C
NM_001348750.1:c.3392+109G>C NP_001335679.1:n.3392+109G>C
NR_145966.2:n.3854+109G>C
NM_015213.4:c.3680+109G>C MANE Select NP_056028.2:n.3680+109G>C
NM_001243254.2:c.3646+143G>C NP_001230183.1:n.3646+143G>C
NM_001348749.2:c.3608+109G>C NP_001335678.1:n.3608+109G>C
NM_001348750.2:c.3392+109G>C NP_001335679.1:n.3392+109G>C