Canonical Allele Identifier: CA473040248

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163600T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142053T>C , CM000673.2:g.9142053T>C	GRCh38
NC_000011.9:g.9163600T>C , CM000673.1:g.9163600T>C	GRCh37
NC_000011.8:g.9120176T>C	NCBI36
NG_053019.1:g.128283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3567A>G MANE Select	ENSP00000328524.3:p.Glu1189=
ENST00000525784.6:n.1429A>G
ENST00000530780.2:c.*3393A>G	ENSP00000433925.1:n.*3393A>G
ENST00000531747.2:n.3238A>G
ENST00000679446.1:n.3488A>G
ENST00000679458.1:n.4968A>G
ENST00000679460.1:n.4629A>G
ENST00000679568.1:c.3567A>G	ENSP00000505860.1:p.Glu1189=
ENST00000679745.1:n.4072A>G
ENST00000679773.1:n.2728A>G
ENST00000679926.1:n.4869A>G
ENST00000679999.1:c.*624A>G	ENSP00000505198.1:n.*624A>G
ENST00000680252.1:c.3234A>G
ENST00000680294.1:c.3360A>G	ENSP00000506113.1:p.Glu1120=
ENST00000680358.1:n.2866A>G
ENST00000680470.1:c.*1348A>G	ENSP00000505975.1:n.*1348A>G
ENST00000680554.1:c.*100A>G	ENSP00000505621.1:n.*100A>G
ENST00000680576.1:n.5043A>G
ENST00000680599.1:n.3608A>G
ENST00000680742.1:c.*100A>G	ENSP00000505206.1:n.*100A>G
ENST00000680791.1:n.2451A>G
ENST00000680885.1:n.5269A>G
ENST00000681158.1:c.3151A>G
ENST00000681203.1:c.3495A>G	ENSP00000506456.1:p.Glu1165=
ENST00000681371.1:n.3439A>G
ENST00000681425.1:n.4045A>G
ENST00000681639.1:n.1846A>G
ENST00000328194.7:c.3567A>G	ENSP00000328524.3:p.Glu1189=
ENST00000525784.5:c.503A>G
ENST00000527700.5:n.3129A>G
ENST00000528725.5:c.263A>G
ENST00000529977.5:n.1468A>G
ENST00000530044.5:c.3567A>G	ENSP00000435866.1:p.Glu1189=
ENST00000531747.1:c.803A>G
ENST00000533737.5:c.230A>G
NM_001243254.1:c.3567A>G	NP_001230183.1:p.Glu1189=
NM_015213.3:c.3567A>G	NP_056028.2:p.Glu1189=
XM_005252832.1:c.3567A>G	XP_005252889.1:p.Glu1189=
XM_011519952.1:c.3567A>G	XP_011518254.1:p.Glu1189=
XM_011519953.1:c.1665A>G	XP_011518255.1:p.Glu555=
XR_242782.2:n.3749A>G
XR_930851.1:n.3749A>G
NM_001348749.1:c.3495A>G	NP_001335678.1:p.Glu1165=
NM_001348750.1:c.3279A>G	NP_001335679.1:p.Glu1093=
NR_145966.2:n.3741A>G
NM_015213.4:c.3567A>G MANE Select	NP_056028.2:p.Glu1189=
NM_001243254.2:c.3567A>G	NP_001230183.1:p.Glu1189=
NM_001348749.2:c.3495A>G	NP_001335678.1:p.Glu1165=
NM_001348750.2:c.3279A>G	NP_001335679.1:p.Glu1093=