Canonical Allele Identifier: CA379597950

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163600T>G (hg19) ; chr11:g.9142053T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3567A>C MANE Select	ENSP00000328524.3:p.Glu1189Asp
ENST00000525784.6:n.1429A>C
ENST00000530780.2:c.*3393A>C	ENSP00000433925.1:n.*3393A>C
ENST00000531747.2:n.3238A>C
ENST00000679446.1:n.3488A>C
ENST00000679458.1:n.4968A>C
ENST00000679460.1:n.4629A>C
ENST00000679568.1:c.3567A>C	ENSP00000505860.1:p.Glu1189Asp
ENST00000679745.1:n.4072A>C
ENST00000679773.1:n.2728A>C
ENST00000679926.1:n.4869A>C
ENST00000679999.1:c.*624A>C	ENSP00000505198.1:n.*624A>C
ENST00000680252.1:c.3234A>C
ENST00000680294.1:c.3360A>C	ENSP00000506113.1:p.Glu1120Asp
ENST00000680358.1:n.2866A>C
ENST00000680470.1:c.*1348A>C	ENSP00000505975.1:n.*1348A>C
ENST00000680554.1:c.*100A>C	ENSP00000505621.1:n.*100A>C
ENST00000680576.1:n.5043A>C
ENST00000680599.1:n.3608A>C
ENST00000680742.1:c.*100A>C	ENSP00000505206.1:n.*100A>C
ENST00000680791.1:n.2451A>C
ENST00000680885.1:n.5269A>C
ENST00000681158.1:c.3151A>C
ENST00000681203.1:c.3495A>C	ENSP00000506456.1:p.Glu1165Asp
ENST00000681371.1:n.3439A>C
ENST00000681425.1:n.4045A>C
ENST00000681639.1:n.1846A>C
ENST00000328194.7:c.3567A>C	ENSP00000328524.3:p.Glu1189Asp
ENST00000525784.5:c.503A>C
ENST00000527700.5:n.3129A>C
ENST00000528725.5:c.263A>C
ENST00000529977.5:n.1468A>C
ENST00000530044.5:c.3567A>C	ENSP00000435866.1:p.Glu1189Asp
ENST00000531747.1:c.803A>C
ENST00000533737.5:c.230A>C
NM_001243254.1:c.3567A>C	NP_001230183.1:p.Glu1189Asp
NM_015213.3:c.3567A>C	NP_056028.2:p.Glu1189Asp
XM_005252832.1:c.3567A>C	XP_005252889.1:p.Glu1189Asp
XM_011519952.1:c.3567A>C	XP_011518254.1:p.Glu1189Asp
XM_011519953.1:c.1665A>C	XP_011518255.1:p.Glu555Asp
XR_242782.2:n.3749A>C
XR_930851.1:n.3749A>C
NM_001348749.1:c.3495A>C	NP_001335678.1:p.Glu1165Asp
NM_001348750.1:c.3279A>C	NP_001335679.1:p.Glu1093Asp
NR_145966.2:n.3741A>C
NM_015213.4:c.3567A>C MANE Select	NP_056028.2:p.Glu1189Asp
NM_001243254.2:c.3567A>C	NP_001230183.1:p.Glu1189Asp
NM_001348749.2:c.3495A>C	NP_001335678.1:p.Glu1165Asp
NM_001348750.2:c.3279A>C	NP_001335679.1:p.Glu1093Asp