Canonical Allele Identifier: CA379597619

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163554T>G (hg19) ; chr11:g.9142007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142007T>G , CM000673.2:g.9142007T>G	GRCh38
NC_000011.9:g.9163554T>G , CM000673.1:g.9163554T>G	GRCh37
NC_000011.8:g.9120130T>G	NCBI36
NG_053019.1:g.128329A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3613A>C MANE Select	ENSP00000328524.3:p.Ile1205Leu
ENST00000525784.6:n.1475A>C
ENST00000530780.2:c.*3439A>C	ENSP00000433925.1:n.*3439A>C
ENST00000531747.2:n.3284A>C
ENST00000679446.1:n.3534A>C
ENST00000679458.1:n.5014A>C
ENST00000679460.1:n.4675A>C
ENST00000679568.1:c.3613A>C	ENSP00000505860.1:p.Ile1205Leu
ENST00000679745.1:n.4118A>C
ENST00000679773.1:n.2774A>C
ENST00000679926.1:n.4915A>C
ENST00000679999.1:c.*670A>C	ENSP00000505198.1:n.*670A>C
ENST00000680252.1:c.3280A>C
ENST00000680294.1:c.3406A>C	ENSP00000506113.1:p.Ile1136Leu
ENST00000680358.1:n.2912A>C
ENST00000680470.1:c.*1394A>C	ENSP00000505975.1:n.*1394A>C
ENST00000680554.1:c.*146A>C	ENSP00000505621.1:n.*146A>C
ENST00000680576.1:n.5089A>C
ENST00000680599.1:n.3654A>C
ENST00000680742.1:c.*146A>C	ENSP00000505206.1:n.*146A>C
ENST00000680791.1:n.2497A>C
ENST00000680885.1:n.5315A>C
ENST00000681158.1:c.3197A>C
ENST00000681203.1:c.3541A>C	ENSP00000506456.1:p.Ile1181Leu
ENST00000681371.1:n.3485A>C
ENST00000681425.1:n.4091A>C
ENST00000681639.1:n.1892A>C
ENST00000328194.7:c.3613A>C	ENSP00000328524.3:p.Ile1205Leu
ENST00000525784.5:c.549A>C
ENST00000527700.5:n.3175A>C
ENST00000528725.5:c.309A>C
ENST00000529977.5:n.1514A>C
ENST00000530044.5:c.3613A>C	ENSP00000435866.1:p.Ile1205Leu
ENST00000531747.1:c.849A>C
ENST00000533737.5:c.276A>C
NM_001243254.1:c.3613A>C	NP_001230183.1:p.Ile1205Leu
NM_015213.3:c.3613A>C	NP_056028.2:p.Ile1205Leu
XM_005252832.1:c.3613A>C	XP_005252889.1:p.Ile1205Leu
XM_011519952.1:c.3613A>C	XP_011518254.1:p.Ile1205Leu
XM_011519953.1:c.1711A>C	XP_011518255.1:p.Ile571Leu
XR_242782.2:n.3795A>C
XR_930851.1:n.3795A>C
NM_001348749.1:c.3541A>C	NP_001335678.1:p.Ile1181Leu
NM_001348750.1:c.3325A>C	NP_001335679.1:p.Ile1109Leu
NR_145966.2:n.3787A>C
NM_015213.4:c.3613A>C MANE Select	NP_056028.2:p.Ile1205Leu
NM_001243254.2:c.3613A>C	NP_001230183.1:p.Ile1205Leu
NM_001348749.2:c.3541A>C	NP_001335678.1:p.Ile1181Leu
NM_001348750.2:c.3325A>C	NP_001335679.1:p.Ile1109Leu