Canonical Allele Identifier: CA5876996

Gene: DENND5A

Linked Data

• dbSNP Id: rs546431984
• ExAC: 11:9163581 G / A
• gnomAD v2: 11-9163581-G-A
• gnomAD v3: 11-9142034-G-A
• gnomAD v4: 11-9142034-G-A
• COSMIC: COSM5369020
• MyVariant Identifiers: chr11:g.9163581G>A (hg19) ; chr11:g.9142034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142034G>A , CM000673.2:g.9142034G>A	GRCh38
NC_000011.9:g.9163581G>A , CM000673.1:g.9163581G>A	GRCh37
NC_000011.8:g.9120157G>A	NCBI36
NG_053019.1:g.128302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3586C>T MANE Select	ENSP00000328524.3:p.Arg1196Trp
ENST00000525784.6:n.1448C>T
ENST00000530780.2:c.*3412C>T	ENSP00000433925.1:n.*3412C>T
ENST00000531747.2:n.3257C>T
ENST00000679446.1:n.3507C>T
ENST00000679458.1:n.4987C>T
ENST00000679460.1:n.4648C>T
ENST00000679568.1:c.3586C>T	ENSP00000505860.1:p.Arg1196Trp
ENST00000679745.1:n.4091C>T
ENST00000679773.1:n.2747C>T
ENST00000679926.1:n.4888C>T
ENST00000679999.1:c.*643C>T	ENSP00000505198.1:n.*643C>T
ENST00000680252.1:c.3253C>T
ENST00000680294.1:c.3379C>T	ENSP00000506113.1:p.Arg1127Trp
ENST00000680358.1:n.2885C>T
ENST00000680470.1:c.*1367C>T	ENSP00000505975.1:n.*1367C>T
ENST00000680554.1:c.*119C>T	ENSP00000505621.1:n.*119C>T
ENST00000680576.1:n.5062C>T
ENST00000680599.1:n.3627C>T
ENST00000680742.1:c.*119C>T	ENSP00000505206.1:n.*119C>T
ENST00000680791.1:n.2470C>T
ENST00000680885.1:n.5288C>T
ENST00000681158.1:c.3170C>T
ENST00000681203.1:c.3514C>T	ENSP00000506456.1:p.Arg1172Trp
ENST00000681371.1:n.3458C>T
ENST00000681425.1:n.4064C>T
ENST00000681639.1:n.1865C>T
ENST00000328194.7:c.3586C>T	ENSP00000328524.3:p.Arg1196Trp
ENST00000525784.5:c.522C>T
ENST00000527700.5:n.3148C>T
ENST00000528725.5:c.282C>T
ENST00000529977.5:n.1487C>T
ENST00000530044.5:c.3586C>T	ENSP00000435866.1:p.Arg1196Trp
ENST00000531747.1:c.822C>T
ENST00000533737.5:c.249C>T
NM_001243254.1:c.3586C>T	NP_001230183.1:p.Arg1196Trp
NM_015213.3:c.3586C>T	NP_056028.2:p.Arg1196Trp
XM_005252832.1:c.3586C>T	XP_005252889.1:p.Arg1196Trp
XM_011519952.1:c.3586C>T	XP_011518254.1:p.Arg1196Trp
XM_011519953.1:c.1684C>T	XP_011518255.1:p.Arg562Trp
XR_242782.2:n.3768C>T
XR_930851.1:n.3768C>T
NM_001348749.1:c.3514C>T	NP_001335678.1:p.Arg1172Trp
NM_001348750.1:c.3298C>T	NP_001335679.1:p.Arg1100Trp
NR_145966.2:n.3760C>T
NM_015213.4:c.3586C>T MANE Select	NP_056028.2:p.Arg1196Trp
NM_001243254.2:c.3586C>T	NP_001230183.1:p.Arg1196Trp
NM_001348749.2:c.3514C>T	NP_001335678.1:p.Arg1172Trp
NM_001348750.2:c.3298C>T	NP_001335679.1:p.Arg1100Trp