Canonical Allele Identifier: CA379597844

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163591A>C (hg19) ; chr11:g.9142044A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142044A>C , CM000673.2:g.9142044A>C	GRCh38
NC_000011.9:g.9163591A>C , CM000673.1:g.9163591A>C	GRCh37
NC_000011.8:g.9120167A>C	NCBI36
NG_053019.1:g.128292T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3576T>G MANE Select	ENSP00000328524.3:p.His1192Gln
ENST00000525784.6:n.1438T>G
ENST00000530780.2:c.*3402T>G	ENSP00000433925.1:n.*3402T>G
ENST00000531747.2:n.3247T>G
ENST00000679446.1:n.3497T>G
ENST00000679458.1:n.4977T>G
ENST00000679460.1:n.4638T>G
ENST00000679568.1:c.3576T>G	ENSP00000505860.1:p.His1192Gln
ENST00000679745.1:n.4081T>G
ENST00000679773.1:n.2737T>G
ENST00000679926.1:n.4878T>G
ENST00000679999.1:c.*633T>G	ENSP00000505198.1:n.*633T>G
ENST00000680252.1:c.3243T>G
ENST00000680294.1:c.3369T>G	ENSP00000506113.1:p.His1123Gln
ENST00000680358.1:n.2875T>G
ENST00000680470.1:c.*1357T>G	ENSP00000505975.1:n.*1357T>G
ENST00000680554.1:c.*109T>G	ENSP00000505621.1:n.*109T>G
ENST00000680576.1:n.5052T>G
ENST00000680599.1:n.3617T>G
ENST00000680742.1:c.*109T>G	ENSP00000505206.1:n.*109T>G
ENST00000680791.1:n.2460T>G
ENST00000680885.1:n.5278T>G
ENST00000681158.1:c.3160T>G
ENST00000681203.1:c.3504T>G	ENSP00000506456.1:p.His1168Gln
ENST00000681371.1:n.3448T>G
ENST00000681425.1:n.4054T>G
ENST00000681639.1:n.1855T>G
ENST00000328194.7:c.3576T>G	ENSP00000328524.3:p.His1192Gln
ENST00000525784.5:c.512T>G
ENST00000527700.5:n.3138T>G
ENST00000528725.5:c.272T>G
ENST00000529977.5:n.1477T>G
ENST00000530044.5:c.3576T>G	ENSP00000435866.1:p.His1192Gln
ENST00000531747.1:c.812T>G
ENST00000533737.5:c.239T>G
NM_001243254.1:c.3576T>G	NP_001230183.1:p.His1192Gln
NM_015213.3:c.3576T>G	NP_056028.2:p.His1192Gln
XM_005252832.1:c.3576T>G	XP_005252889.1:p.His1192Gln
XM_011519952.1:c.3576T>G	XP_011518254.1:p.His1192Gln
XM_011519953.1:c.1674T>G	XP_011518255.1:p.His558Gln
XR_242782.2:n.3758T>G
XR_930851.1:n.3758T>G
NM_001348749.1:c.3504T>G	NP_001335678.1:p.His1168Gln
NM_001348750.1:c.3288T>G	NP_001335679.1:p.His1096Gln
NR_145966.2:n.3750T>G
NM_015213.4:c.3576T>G MANE Select	NP_056028.2:p.His1192Gln
NM_001243254.2:c.3576T>G	NP_001230183.1:p.His1192Gln
NM_001348749.2:c.3504T>G	NP_001335678.1:p.His1168Gln
NM_001348750.2:c.3288T>G	NP_001335679.1:p.His1096Gln