Canonical Allele Identifier: CA473044124

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2028987
• ClinVar RCV Id: RCV002863661
• dbSNP Id: rs1847953812
• gnomAD v3: 11-9160767-G-A
• gnomAD v4: 11-9160767-G-A
• MyVariant Identifiers: chr11:g.9182314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160767G>A , CM000673.2:g.9160767G>A	GRCh38
NC_000011.9:g.9182314G>A , CM000673.1:g.9182314G>A	GRCh37
NC_000011.8:g.9138890G>A	NCBI36
NG_053019.1:g.109569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2382C>T MANE Select	ENSP00000328524.3:p.Ala794=
ENST00000530780.2:c.*2208C>T	ENSP00000433925.1:n.*2208C>T
ENST00000679446.1:n.2303C>T
ENST00000679458.1:n.3783C>T
ENST00000679460.1:n.2171C>T
ENST00000679568.1:c.2382C>T	ENSP00000505860.1:p.Ala794=
ENST00000679745.1:n.2171C>T
ENST00000679926.1:n.1198C>T
ENST00000679999.1:c.2382C>T	ENSP00000505198.1:p.Ala794=
ENST00000680252.1:c.2171C>T
ENST00000680294.1:c.2382C>T	ENSP00000506113.1:p.Ala794=
ENST00000680358.1:n.1681C>T
ENST00000680470.1:c.*248C>T	ENSP00000505975.1:n.*248C>T
ENST00000680554.1:c.2094C>T	ENSP00000505621.1:p.Ala698=
ENST00000680576.1:n.2171C>T
ENST00000680599.1:n.2299C>T
ENST00000680742.1:c.2382C>T	ENSP00000505206.1:p.Ala794=
ENST00000680885.1:n.2303C>T
ENST00000681158.1:c.2171C>T
ENST00000681173.1:n.2171C>T
ENST00000681203.1:c.2310C>T	ENSP00000506456.1:p.Ala770=
ENST00000681425.1:n.2303C>T
ENST00000328194.7:c.2382C>T	ENSP00000328524.3:p.Ala794=
ENST00000526707.5:c.2310C>T	ENSP00000436780.1:p.Ala770=
ENST00000527700.5:n.1944C>T
ENST00000530044.5:c.2382C>T	ENSP00000435866.1:p.Ala794=
NM_001243254.1:c.2382C>T	NP_001230183.1:p.Ala794=
NM_015213.3:c.2382C>T	NP_056028.2:p.Ala794=
XM_005252832.1:c.2382C>T	XP_005252889.1:p.Ala794=
XM_011519952.1:c.2382C>T	XP_011518254.1:p.Ala794=
XM_011519953.1:c.480C>T	XP_011518255.1:p.Ala160=
XR_242782.2:n.2647C>T
XR_930851.1:n.2647C>T
XR_930852.1:n.2647C>T
XR_930853.1:n.2496C>T
NM_001348749.1:c.2310C>T	NP_001335678.1:p.Ala770=
NM_001348750.1:c.2094C>T	NP_001335679.1:p.Ala698=
NR_145966.2:n.2639C>T
NM_015213.4:c.2382C>T MANE Select	NP_056028.2:p.Ala794=
NM_001243254.2:c.2382C>T	NP_001230183.1:p.Ala794=
NM_001348749.2:c.2310C>T	NP_001335678.1:p.Ala770=
NM_001348750.2:c.2094C>T	NP_001335679.1:p.Ala698=