Canonical Allele Identifier: CA473040231

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142020-T-A
• MyVariant Identifiers: chr11:g.9163567T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142020T>A , CM000673.2:g.9142020T>A	GRCh38
NC_000011.9:g.9163567T>A , CM000673.1:g.9163567T>A	GRCh37
NC_000011.8:g.9120143T>A	NCBI36
NG_053019.1:g.128316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3600A>T MANE Select	ENSP00000328524.3:p.Arg1200=
ENST00000525784.6:n.1462A>T
ENST00000530780.2:c.*3426A>T	ENSP00000433925.1:n.*3426A>T
ENST00000531747.2:n.3271A>T
ENST00000679446.1:n.3521A>T
ENST00000679458.1:n.5001A>T
ENST00000679460.1:n.4662A>T
ENST00000679568.1:c.3600A>T	ENSP00000505860.1:p.Arg1200=
ENST00000679745.1:n.4105A>T
ENST00000679773.1:n.2761A>T
ENST00000679926.1:n.4902A>T
ENST00000679999.1:c.*657A>T	ENSP00000505198.1:n.*657A>T
ENST00000680252.1:c.3267A>T
ENST00000680294.1:c.3393A>T	ENSP00000506113.1:p.Arg1131=
ENST00000680358.1:n.2899A>T
ENST00000680470.1:c.*1381A>T	ENSP00000505975.1:n.*1381A>T
ENST00000680554.1:c.*133A>T	ENSP00000505621.1:n.*133A>T
ENST00000680576.1:n.5076A>T
ENST00000680599.1:n.3641A>T
ENST00000680742.1:c.*133A>T	ENSP00000505206.1:n.*133A>T
ENST00000680791.1:n.2484A>T
ENST00000680885.1:n.5302A>T
ENST00000681158.1:c.3184A>T
ENST00000681203.1:c.3528A>T	ENSP00000506456.1:p.Arg1176=
ENST00000681371.1:n.3472A>T
ENST00000681425.1:n.4078A>T
ENST00000681639.1:n.1879A>T
ENST00000328194.7:c.3600A>T	ENSP00000328524.3:p.Arg1200=
ENST00000525784.5:c.536A>T
ENST00000527700.5:n.3162A>T
ENST00000528725.5:c.296A>T
ENST00000529977.5:n.1501A>T
ENST00000530044.5:c.3600A>T	ENSP00000435866.1:p.Arg1200=
ENST00000531747.1:c.836A>T
ENST00000533737.5:c.263A>T
NM_001243254.1:c.3600A>T	NP_001230183.1:p.Arg1200=
NM_015213.3:c.3600A>T	NP_056028.2:p.Arg1200=
XM_005252832.1:c.3600A>T	XP_005252889.1:p.Arg1200=
XM_011519952.1:c.3600A>T	XP_011518254.1:p.Arg1200=
XM_011519953.1:c.1698A>T	XP_011518255.1:p.Arg566=
XR_242782.2:n.3782A>T
XR_930851.1:n.3782A>T
NM_001348749.1:c.3528A>T	NP_001335678.1:p.Arg1176=
NM_001348750.1:c.3312A>T	NP_001335679.1:p.Arg1104=
NR_145966.2:n.3774A>T
NM_015213.4:c.3600A>T MANE Select	NP_056028.2:p.Arg1200=
NM_001243254.2:c.3600A>T	NP_001230183.1:p.Arg1200=
NM_001348749.2:c.3528A>T	NP_001335678.1:p.Arg1176=
NM_001348750.2:c.3312A>T	NP_001335679.1:p.Arg1104=