Canonical Allele Identifier: CA5877000

Gene: DENND5A

Linked Data

• dbSNP Id: rs767756223
• ExAC: 11:9163597 G / A
• gnomAD v2: 11-9163597-G-A
• gnomAD v4: 11-9142050-G-A
• MyVariant Identifiers: chr11:g.9163597G>A (hg19) ; chr11:g.9142050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142050G>A , CM000673.2:g.9142050G>A	GRCh38
NC_000011.9:g.9163597G>A , CM000673.1:g.9163597G>A	GRCh37
NC_000011.8:g.9120173G>A	NCBI36
NG_053019.1:g.128286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3570C>T MANE Select	ENSP00000328524.3:p.Asn1190=
ENST00000525784.6:n.1432C>T
ENST00000530780.2:c.*3396C>T	ENSP00000433925.1:n.*3396C>T
ENST00000531747.2:n.3241C>T
ENST00000679446.1:n.3491C>T
ENST00000679458.1:n.4971C>T
ENST00000679460.1:n.4632C>T
ENST00000679568.1:c.3570C>T	ENSP00000505860.1:p.Asn1190=
ENST00000679745.1:n.4075C>T
ENST00000679773.1:n.2731C>T
ENST00000679926.1:n.4872C>T
ENST00000679999.1:c.*627C>T	ENSP00000505198.1:n.*627C>T
ENST00000680252.1:c.3237C>T
ENST00000680294.1:c.3363C>T	ENSP00000506113.1:p.Asn1121=
ENST00000680358.1:n.2869C>T
ENST00000680470.1:c.*1351C>T	ENSP00000505975.1:n.*1351C>T
ENST00000680554.1:c.*103C>T	ENSP00000505621.1:n.*103C>T
ENST00000680576.1:n.5046C>T
ENST00000680599.1:n.3611C>T
ENST00000680742.1:c.*103C>T	ENSP00000505206.1:n.*103C>T
ENST00000680791.1:n.2454C>T
ENST00000680885.1:n.5272C>T
ENST00000681158.1:c.3154C>T
ENST00000681203.1:c.3498C>T	ENSP00000506456.1:p.Asn1166=
ENST00000681371.1:n.3442C>T
ENST00000681425.1:n.4048C>T
ENST00000681639.1:n.1849C>T
ENST00000328194.7:c.3570C>T	ENSP00000328524.3:p.Asn1190=
ENST00000525784.5:c.506C>T
ENST00000527700.5:n.3132C>T
ENST00000528725.5:c.266C>T
ENST00000529977.5:n.1471C>T
ENST00000530044.5:c.3570C>T	ENSP00000435866.1:p.Asn1190=
ENST00000531747.1:c.806C>T
ENST00000533737.5:c.233C>T
NM_001243254.1:c.3570C>T	NP_001230183.1:p.Asn1190=
NM_015213.3:c.3570C>T	NP_056028.2:p.Asn1190=
XM_005252832.1:c.3570C>T	XP_005252889.1:p.Asn1190=
XM_011519952.1:c.3570C>T	XP_011518254.1:p.Asn1190=
XM_011519953.1:c.1668C>T	XP_011518255.1:p.Asn556=
XR_242782.2:n.3752C>T
XR_930851.1:n.3752C>T
NM_001348749.1:c.3498C>T	NP_001335678.1:p.Asn1166=
NM_001348750.1:c.3282C>T	NP_001335679.1:p.Asn1094=
NR_145966.2:n.3744C>T
NM_015213.4:c.3570C>T MANE Select	NP_056028.2:p.Asn1190=
NM_001243254.2:c.3570C>T	NP_001230183.1:p.Asn1190=
NM_001348749.2:c.3498C>T	NP_001335678.1:p.Asn1166=
NM_001348750.2:c.3282C>T	NP_001335679.1:p.Asn1094=