Canonical Allele Identifier: CA5877788

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2466901
• ClinVar RCV Id: RCV003196935
• dbSNP Id: rs369437857
• ExAC: 11:9225563 C / A
• gnomAD v2: 11-9225563-C-A
• gnomAD v3: 11-9204016-C-A
• gnomAD v4: 11-9204016-C-A
• MyVariant Identifiers: chr11:g.9225563C>A (hg19) ; chr11:g.9204016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204016C>A , CM000673.2:g.9204016C>A	GRCh38
NC_000011.9:g.9225563C>A , CM000673.1:g.9225563C>A	GRCh37
NC_000011.8:g.9182139C>A	NCBI36
NG_053019.1:g.66320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.593G>T MANE Select	ENSP00000328524.3:p.Arg198Leu
ENST00000530780.2:c.*419G>T	ENSP00000433925.1:n.*419G>T
ENST00000530867.2:n.382G>T
ENST00000532696.2:n.516G>T
ENST00000679446.1:n.514G>T
ENST00000679460.1:n.382G>T
ENST00000679568.1:c.593G>T	ENSP00000505860.1:p.Arg198Leu
ENST00000679745.1:n.382G>T
ENST00000679999.1:c.593G>T	ENSP00000505198.1:p.Arg198Leu
ENST00000680252.1:c.382G>T
ENST00000680294.1:c.593G>T	ENSP00000506113.1:p.Arg198Leu
ENST00000680470.1:c.593G>T	ENSP00000505975.1:p.Arg198Leu
ENST00000680554.1:c.305G>T	ENSP00000505621.1:p.Arg102Leu
ENST00000680576.1:n.382G>T
ENST00000680599.1:n.510G>T
ENST00000680742.1:c.593G>T	ENSP00000505206.1:p.Arg198Leu
ENST00000680885.1:n.514G>T
ENST00000681158.1:c.382G>T
ENST00000681173.1:n.382G>T
ENST00000681203.1:c.521G>T	ENSP00000506456.1:p.Arg174Leu
ENST00000681425.1:n.514G>T
ENST00000681915.1:n.382G>T
ENST00000328194.7:c.593G>T	ENSP00000328524.3:p.Arg198Leu
ENST00000526707.5:c.521G>T	ENSP00000436780.1:p.Arg174Leu
ENST00000530044.5:c.593G>T	ENSP00000435866.1:p.Arg198Leu
ENST00000532696.1:n.348G>T
NM_001243254.1:c.593G>T	NP_001230183.1:p.Arg198Leu
NM_015213.3:c.593G>T	NP_056028.2:p.Arg198Leu
XM_005252832.1:c.593G>T	XP_005252889.1:p.Arg198Leu
XM_011519952.1:c.593G>T	XP_011518254.1:p.Arg198Leu
XR_242782.2:n.858G>T
XR_930851.1:n.858G>T
XR_930852.1:n.858G>T
XR_930853.1:n.858G>T
NM_001348749.1:c.521G>T	NP_001335678.1:p.Arg174Leu
NM_001348750.1:c.305G>T	NP_001335679.1:p.Arg102Leu
NR_145966.2:n.850G>T
NM_015213.4:c.593G>T MANE Select	NP_056028.2:p.Arg198Leu
NM_001243254.2:c.593G>T	NP_001230183.1:p.Arg198Leu
NM_001348749.2:c.521G>T	NP_001335678.1:p.Arg174Leu
NM_001348750.2:c.305G>T	NP_001335679.1:p.Arg102Leu