Canonical Allele Identifier: CA379597956

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163601T>G (hg19) ; chr11:g.9142054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142054T>G , CM000673.2:g.9142054T>G	GRCh38
NC_000011.9:g.9163601T>G , CM000673.1:g.9163601T>G	GRCh37
NC_000011.8:g.9120177T>G	NCBI36
NG_053019.1:g.128282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3566A>C MANE Select	ENSP00000328524.3:p.Glu1189Ala
ENST00000525784.6:n.1428A>C
ENST00000530780.2:c.*3392A>C	ENSP00000433925.1:n.*3392A>C
ENST00000531747.2:n.3237A>C
ENST00000679446.1:n.3487A>C
ENST00000679458.1:n.4967A>C
ENST00000679460.1:n.4628A>C
ENST00000679568.1:c.3566A>C	ENSP00000505860.1:p.Glu1189Ala
ENST00000679745.1:n.4071A>C
ENST00000679773.1:n.2727A>C
ENST00000679926.1:n.4868A>C
ENST00000679999.1:c.*623A>C	ENSP00000505198.1:n.*623A>C
ENST00000680252.1:c.3233A>C
ENST00000680294.1:c.3359A>C	ENSP00000506113.1:p.Glu1120Ala
ENST00000680358.1:n.2865A>C
ENST00000680470.1:c.*1347A>C	ENSP00000505975.1:n.*1347A>C
ENST00000680554.1:c.*99A>C	ENSP00000505621.1:n.*99A>C
ENST00000680576.1:n.5042A>C
ENST00000680599.1:n.3607A>C
ENST00000680742.1:c.*99A>C	ENSP00000505206.1:n.*99A>C
ENST00000680791.1:n.2450A>C
ENST00000680885.1:n.5268A>C
ENST00000681158.1:c.3150A>C
ENST00000681203.1:c.3494A>C	ENSP00000506456.1:p.Glu1165Ala
ENST00000681371.1:n.3438A>C
ENST00000681425.1:n.4044A>C
ENST00000681639.1:n.1845A>C
ENST00000328194.7:c.3566A>C	ENSP00000328524.3:p.Glu1189Ala
ENST00000525784.5:c.502A>C
ENST00000527700.5:n.3128A>C
ENST00000528725.5:c.262A>C
ENST00000529977.5:n.1467A>C
ENST00000530044.5:c.3566A>C	ENSP00000435866.1:p.Glu1189Ala
ENST00000531747.1:c.802A>C
ENST00000533737.5:c.229A>C
NM_001243254.1:c.3566A>C	NP_001230183.1:p.Glu1189Ala
NM_015213.3:c.3566A>C	NP_056028.2:p.Glu1189Ala
XM_005252832.1:c.3566A>C	XP_005252889.1:p.Glu1189Ala
XM_011519952.1:c.3566A>C	XP_011518254.1:p.Glu1189Ala
XM_011519953.1:c.1664A>C	XP_011518255.1:p.Glu555Ala
XR_242782.2:n.3748A>C
XR_930851.1:n.3748A>C
NM_001348749.1:c.3494A>C	NP_001335678.1:p.Glu1165Ala
NM_001348750.1:c.3278A>C	NP_001335679.1:p.Glu1093Ala
NR_145966.2:n.3740A>C
NM_015213.4:c.3566A>C MANE Select	NP_056028.2:p.Glu1189Ala
NM_001243254.2:c.3566A>C	NP_001230183.1:p.Glu1189Ala
NM_001348749.2:c.3494A>C	NP_001335678.1:p.Glu1165Ala
NM_001348750.2:c.3278A>C	NP_001335679.1:p.Glu1093Ala