Canonical Allele Identifier: CA379597963

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163602C>G (hg19) ; chr11:g.9142055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142055C>G , CM000673.2:g.9142055C>G	GRCh38
NC_000011.9:g.9163602C>G , CM000673.1:g.9163602C>G	GRCh37
NC_000011.8:g.9120178C>G	NCBI36
NG_053019.1:g.128281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3565G>C MANE Select	ENSP00000328524.3:p.Glu1189Gln
ENST00000525784.6:n.1427G>C
ENST00000530780.2:c.*3391G>C	ENSP00000433925.1:n.*3391G>C
ENST00000531747.2:n.3236G>C
ENST00000679446.1:n.3486G>C
ENST00000679458.1:n.4966G>C
ENST00000679460.1:n.4627G>C
ENST00000679568.1:c.3565G>C	ENSP00000505860.1:p.Glu1189Gln
ENST00000679745.1:n.4070G>C
ENST00000679773.1:n.2726G>C
ENST00000679926.1:n.4867G>C
ENST00000679999.1:c.*622G>C	ENSP00000505198.1:n.*622G>C
ENST00000680252.1:c.3232G>C
ENST00000680294.1:c.3358G>C	ENSP00000506113.1:p.Glu1120Gln
ENST00000680358.1:n.2864G>C
ENST00000680470.1:c.*1346G>C	ENSP00000505975.1:n.*1346G>C
ENST00000680554.1:c.*98G>C	ENSP00000505621.1:n.*98G>C
ENST00000680576.1:n.5041G>C
ENST00000680599.1:n.3606G>C
ENST00000680742.1:c.*98G>C	ENSP00000505206.1:n.*98G>C
ENST00000680791.1:n.2449G>C
ENST00000680885.1:n.5267G>C
ENST00000681158.1:c.3149G>C
ENST00000681203.1:c.3493G>C	ENSP00000506456.1:p.Glu1165Gln
ENST00000681371.1:n.3437G>C
ENST00000681425.1:n.4043G>C
ENST00000681639.1:n.1844G>C
ENST00000328194.7:c.3565G>C	ENSP00000328524.3:p.Glu1189Gln
ENST00000525784.5:c.501G>C
ENST00000527700.5:n.3127G>C
ENST00000528725.5:c.261G>C
ENST00000529977.5:n.1466G>C
ENST00000530044.5:c.3565G>C	ENSP00000435866.1:p.Glu1189Gln
ENST00000531747.1:c.801G>C
ENST00000533737.5:c.228G>C
NM_001243254.1:c.3565G>C	NP_001230183.1:p.Glu1189Gln
NM_015213.3:c.3565G>C	NP_056028.2:p.Glu1189Gln
XM_005252832.1:c.3565G>C	XP_005252889.1:p.Glu1189Gln
XM_011519952.1:c.3565G>C	XP_011518254.1:p.Glu1189Gln
XM_011519953.1:c.1663G>C	XP_011518255.1:p.Glu555Gln
XR_242782.2:n.3747G>C
XR_930851.1:n.3747G>C
NM_001348749.1:c.3493G>C	NP_001335678.1:p.Glu1165Gln
NM_001348750.1:c.3277G>C	NP_001335679.1:p.Glu1093Gln
NR_145966.2:n.3739G>C
NM_015213.4:c.3565G>C MANE Select	NP_056028.2:p.Glu1189Gln
NM_001243254.2:c.3565G>C	NP_001230183.1:p.Glu1189Gln
NM_001348749.2:c.3493G>C	NP_001335678.1:p.Glu1165Gln
NM_001348750.2:c.3277G>C	NP_001335679.1:p.Glu1093Gln