Canonical Allele Identifier: CA379608588

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 806617
• ClinVar RCV Id: RCV000994568
• dbSNP Id: rs1590218679
• MyVariant Identifiers: chr11:g.9182387A>T (hg19) ; chr11:g.9160840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160840A>T , CM000673.2:g.9160840A>T	GRCh38
NC_000011.9:g.9182387A>T , CM000673.1:g.9182387A>T	GRCh37
NC_000011.8:g.9138963A>T	NCBI36
NG_053019.1:g.109496T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2309T>A MANE Select	ENSP00000328524.3:p.Met770Lys
ENST00000530780.2:c.*2135T>A	ENSP00000433925.1:n.*2135T>A
ENST00000679446.1:n.2230T>A
ENST00000679458.1:n.3710T>A
ENST00000679460.1:n.2098T>A
ENST00000679568.1:c.2309T>A	ENSP00000505860.1:p.Met770Lys
ENST00000679745.1:n.2098T>A
ENST00000679926.1:n.1125T>A
ENST00000679999.1:c.2309T>A	ENSP00000505198.1:p.Met770Lys
ENST00000680252.1:c.2098T>A
ENST00000680294.1:c.2309T>A	ENSP00000506113.1:p.Met770Lys
ENST00000680358.1:n.1608T>A
ENST00000680470.1:c.*175T>A	ENSP00000505975.1:n.*175T>A
ENST00000680554.1:c.2021T>A	ENSP00000505621.1:p.Met674Lys
ENST00000680576.1:n.2098T>A
ENST00000680599.1:n.2226T>A
ENST00000680742.1:c.2309T>A	ENSP00000505206.1:p.Met770Lys
ENST00000680885.1:n.2230T>A
ENST00000681158.1:c.2098T>A
ENST00000681173.1:n.2098T>A
ENST00000681203.1:c.2237T>A	ENSP00000506456.1:p.Met746Lys
ENST00000681425.1:n.2230T>A
ENST00000328194.7:c.2309T>A	ENSP00000328524.3:p.Met770Lys
ENST00000526707.5:c.2237T>A	ENSP00000436780.1:p.Met746Lys
ENST00000527700.5:n.1871T>A
ENST00000530044.5:c.2309T>A	ENSP00000435866.1:p.Met770Lys
NM_001243254.1:c.2309T>A	NP_001230183.1:p.Met770Lys
NM_015213.3:c.2309T>A	NP_056028.2:p.Met770Lys
XM_005252832.1:c.2309T>A	XP_005252889.1:p.Met770Lys
XM_011519952.1:c.2309T>A	XP_011518254.1:p.Met770Lys
XM_011519953.1:c.407T>A	XP_011518255.1:p.Met136Lys
XR_242782.2:n.2574T>A
XR_930851.1:n.2574T>A
XR_930852.1:n.2574T>A
XR_930853.1:n.2423T>A
NM_001348749.1:c.2237T>A	NP_001335678.1:p.Met746Lys
NM_001348750.1:c.2021T>A	NP_001335679.1:p.Met674Lys
NR_145966.2:n.2566T>A
NM_015213.4:c.2309T>A MANE Select	NP_056028.2:p.Met770Lys
NM_001243254.2:c.2309T>A	NP_001230183.1:p.Met770Lys
NM_001348749.2:c.2237T>A	NP_001335678.1:p.Met746Lys
NM_001348750.2:c.2021T>A	NP_001335679.1:p.Met674Lys