Canonical Allele Identifier: CA473040234

Gene: DENND5A

Linked Data

• dbSNP Id: rs1381651195
• gnomAD v2: 11-9163573-G-A
• gnomAD v4: 11-9142026-G-A
• MyVariant Identifiers: chr11:g.9163573G>A (hg19) ; chr11:g.9142026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142026G>A , CM000673.2:g.9142026G>A	GRCh38
NC_000011.9:g.9163573G>A , CM000673.1:g.9163573G>A	GRCh37
NC_000011.8:g.9120149G>A	NCBI36
NG_053019.1:g.128310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3594C>T MANE Select	ENSP00000328524.3:p.Phe1198=
ENST00000525784.6:n.1456C>T
ENST00000530780.2:c.*3420C>T	ENSP00000433925.1:n.*3420C>T
ENST00000531747.2:n.3265C>T
ENST00000679446.1:n.3515C>T
ENST00000679458.1:n.4995C>T
ENST00000679460.1:n.4656C>T
ENST00000679568.1:c.3594C>T	ENSP00000505860.1:p.Phe1198=
ENST00000679745.1:n.4099C>T
ENST00000679773.1:n.2755C>T
ENST00000679926.1:n.4896C>T
ENST00000679999.1:c.*651C>T	ENSP00000505198.1:n.*651C>T
ENST00000680252.1:c.3261C>T
ENST00000680294.1:c.3387C>T	ENSP00000506113.1:p.Phe1129=
ENST00000680358.1:n.2893C>T
ENST00000680470.1:c.*1375C>T	ENSP00000505975.1:n.*1375C>T
ENST00000680554.1:c.*127C>T	ENSP00000505621.1:n.*127C>T
ENST00000680576.1:n.5070C>T
ENST00000680599.1:n.3635C>T
ENST00000680742.1:c.*127C>T	ENSP00000505206.1:n.*127C>T
ENST00000680791.1:n.2478C>T
ENST00000680885.1:n.5296C>T
ENST00000681158.1:c.3178C>T
ENST00000681203.1:c.3522C>T	ENSP00000506456.1:p.Phe1174=
ENST00000681371.1:n.3466C>T
ENST00000681425.1:n.4072C>T
ENST00000681639.1:n.1873C>T
ENST00000328194.7:c.3594C>T	ENSP00000328524.3:p.Phe1198=
ENST00000525784.5:c.530C>T
ENST00000527700.5:n.3156C>T
ENST00000528725.5:c.290C>T
ENST00000529977.5:n.1495C>T
ENST00000530044.5:c.3594C>T	ENSP00000435866.1:p.Phe1198=
ENST00000531747.1:c.830C>T
ENST00000533737.5:c.257C>T
NM_001243254.1:c.3594C>T	NP_001230183.1:p.Phe1198=
NM_015213.3:c.3594C>T	NP_056028.2:p.Phe1198=
XM_005252832.1:c.3594C>T	XP_005252889.1:p.Phe1198=
XM_011519952.1:c.3594C>T	XP_011518254.1:p.Phe1198=
XM_011519953.1:c.1692C>T	XP_011518255.1:p.Phe564=
XR_242782.2:n.3776C>T
XR_930851.1:n.3776C>T
NM_001348749.1:c.3522C>T	NP_001335678.1:p.Phe1174=
NM_001348750.1:c.3306C>T	NP_001335679.1:p.Phe1102=
NR_145966.2:n.3768C>T
NM_015213.4:c.3594C>T MANE Select	NP_056028.2:p.Phe1198=
NM_001243254.2:c.3594C>T	NP_001230183.1:p.Phe1198=
NM_001348749.2:c.3522C>T	NP_001335678.1:p.Phe1174=
NM_001348750.2:c.3306C>T	NP_001335679.1:p.Phe1102=