Canonical Allele Identifier: CA379608438

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9160823-C-T
• MyVariant Identifiers: chr11:g.9182370C>T (hg19) ; chr11:g.9160823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160823C>T , CM000673.2:g.9160823C>T	GRCh38
NC_000011.9:g.9182370C>T , CM000673.1:g.9182370C>T	GRCh37
NC_000011.8:g.9138946C>T	NCBI36
NG_053019.1:g.109513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2326G>A MANE Select	ENSP00000328524.3:p.Glu776Lys
ENST00000530780.2:c.*2152G>A	ENSP00000433925.1:n.*2152G>A
ENST00000679446.1:n.2247G>A
ENST00000679458.1:n.3727G>A
ENST00000679460.1:n.2115G>A
ENST00000679568.1:c.2326G>A	ENSP00000505860.1:p.Glu776Lys
ENST00000679745.1:n.2115G>A
ENST00000679926.1:n.1142G>A
ENST00000679999.1:c.2326G>A	ENSP00000505198.1:p.Glu776Lys
ENST00000680252.1:c.2115G>A
ENST00000680294.1:c.2326G>A	ENSP00000506113.1:p.Glu776Lys
ENST00000680358.1:n.1625G>A
ENST00000680470.1:c.*192G>A	ENSP00000505975.1:n.*192G>A
ENST00000680554.1:c.2038G>A	ENSP00000505621.1:p.Glu680Lys
ENST00000680576.1:n.2115G>A
ENST00000680599.1:n.2243G>A
ENST00000680742.1:c.2326G>A	ENSP00000505206.1:p.Glu776Lys
ENST00000680885.1:n.2247G>A
ENST00000681158.1:c.2115G>A
ENST00000681173.1:n.2115G>A
ENST00000681203.1:c.2254G>A	ENSP00000506456.1:p.Glu752Lys
ENST00000681425.1:n.2247G>A
ENST00000328194.7:c.2326G>A	ENSP00000328524.3:p.Glu776Lys
ENST00000526707.5:c.2254G>A	ENSP00000436780.1:p.Glu752Lys
ENST00000527700.5:n.1888G>A
ENST00000530044.5:c.2326G>A	ENSP00000435866.1:p.Glu776Lys
NM_001243254.1:c.2326G>A	NP_001230183.1:p.Glu776Lys
NM_015213.3:c.2326G>A	NP_056028.2:p.Glu776Lys
XM_005252832.1:c.2326G>A	XP_005252889.1:p.Glu776Lys
XM_011519952.1:c.2326G>A	XP_011518254.1:p.Glu776Lys
XM_011519953.1:c.424G>A	XP_011518255.1:p.Glu142Lys
XR_242782.2:n.2591G>A
XR_930851.1:n.2591G>A
XR_930852.1:n.2591G>A
XR_930853.1:n.2440G>A
NM_001348749.1:c.2254G>A	NP_001335678.1:p.Glu752Lys
NM_001348750.1:c.2038G>A	NP_001335679.1:p.Glu680Lys
NR_145966.2:n.2583G>A
NM_015213.4:c.2326G>A MANE Select	NP_056028.2:p.Glu776Lys
NM_001243254.2:c.2326G>A	NP_001230183.1:p.Glu776Lys
NM_001348749.2:c.2254G>A	NP_001335678.1:p.Glu752Lys
NM_001348750.2:c.2038G>A	NP_001335679.1:p.Glu680Lys