Canonical Allele Identifier: CA379598067

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163617C>G (hg19) ; chr11:g.9142070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142070C>G , CM000673.2:g.9142070C>G	GRCh38
NC_000011.9:g.9163617C>G , CM000673.1:g.9163617C>G	GRCh37
NC_000011.8:g.9120193C>G	NCBI36
NG_053019.1:g.128266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3550G>C MANE Select	ENSP00000328524.3:p.Glu1184Gln
ENST00000525784.6:n.1412G>C
ENST00000530780.2:c.*3376G>C	ENSP00000433925.1:n.*3376G>C
ENST00000531747.2:n.3221G>C
ENST00000679446.1:n.3471G>C
ENST00000679458.1:n.4951G>C
ENST00000679460.1:n.4612G>C
ENST00000679568.1:c.3550G>C	ENSP00000505860.1:p.Glu1184Gln
ENST00000679745.1:n.4055G>C
ENST00000679773.1:n.2711G>C
ENST00000679926.1:n.4852G>C
ENST00000679999.1:c.*607G>C	ENSP00000505198.1:n.*607G>C
ENST00000680252.1:c.3217G>C
ENST00000680294.1:c.3343G>C	ENSP00000506113.1:p.Glu1115Gln
ENST00000680358.1:n.2849G>C
ENST00000680470.1:c.*1331G>C	ENSP00000505975.1:n.*1331G>C
ENST00000680554.1:c.*83G>C	ENSP00000505621.1:n.*83G>C
ENST00000680576.1:n.5026G>C
ENST00000680599.1:n.3591G>C
ENST00000680742.1:c.*83G>C	ENSP00000505206.1:n.*83G>C
ENST00000680791.1:n.2434G>C
ENST00000680885.1:n.5252G>C
ENST00000681158.1:c.3134G>C
ENST00000681203.1:c.3478G>C	ENSP00000506456.1:p.Glu1160Gln
ENST00000681371.1:n.3422G>C
ENST00000681425.1:n.4028G>C
ENST00000681639.1:n.1829G>C
ENST00000328194.7:c.3550G>C	ENSP00000328524.3:p.Glu1184Gln
ENST00000525784.5:c.486G>C
ENST00000527700.5:n.3112G>C
ENST00000528725.5:c.246G>C
ENST00000529977.5:n.1451G>C
ENST00000530044.5:c.3550G>C	ENSP00000435866.1:p.Glu1184Gln
ENST00000531747.1:c.786G>C
ENST00000533737.5:c.213G>C
NM_001243254.1:c.3550G>C	NP_001230183.1:p.Glu1184Gln
NM_015213.3:c.3550G>C	NP_056028.2:p.Glu1184Gln
XM_005252832.1:c.3550G>C	XP_005252889.1:p.Glu1184Gln
XM_011519952.1:c.3550G>C	XP_011518254.1:p.Glu1184Gln
XM_011519953.1:c.1648G>C	XP_011518255.1:p.Glu550Gln
XR_242782.2:n.3732G>C
XR_930851.1:n.3732G>C
NM_001348749.1:c.3478G>C	NP_001335678.1:p.Glu1160Gln
NM_001348750.1:c.3262G>C	NP_001335679.1:p.Glu1088Gln
NR_145966.2:n.3724G>C
NM_015213.4:c.3550G>C MANE Select	NP_056028.2:p.Glu1184Gln
NM_001243254.2:c.3550G>C	NP_001230183.1:p.Glu1184Gln
NM_001348749.2:c.3478G>C	NP_001335678.1:p.Glu1160Gln
NM_001348750.2:c.3262G>C	NP_001335679.1:p.Glu1088Gln