Canonical Allele Identifier: CA5876991

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2971285
• ClinVar RCV Id: RCV003827467
• dbSNP Id: rs760459844
• ExAC: 11:9163540 G / A
• gnomAD v2: 11-9163540-G-A
• gnomAD v3: 11-9141993-G-A
• gnomAD v4: 11-9141993-G-A
• MyVariant Identifiers: chr11:g.9163540G>A (hg19) ; chr11:g.9141993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141993G>A , CM000673.2:g.9141993G>A	GRCh38
NC_000011.9:g.9163540G>A , CM000673.1:g.9163540G>A	GRCh37
NC_000011.8:g.9120116G>A	NCBI36
NG_053019.1:g.128343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328194.8:c.3627C>T MANE Select	ENSP00000328524.3:p.Pro1209=
ENST00000525784.6:n.1489C>T
ENST00000530780.2:c.*3453C>T	ENSP00000433925.1:n.*3453C>T
ENST00000531747.2:n.3298C>T
ENST00000679446.1:n.3548C>T
ENST00000679458.1:n.5028C>T
ENST00000679460.1:n.4689C>T
ENST00000679568.1:c.3627C>T	ENSP00000505860.1:p.Pro1209=
ENST00000679745.1:n.4132C>T
ENST00000679773.1:n.2788C>T
ENST00000679926.1:n.4929C>T
ENST00000679999.1:c.*684C>T	ENSP00000505198.1:n.*684C>T
ENST00000680252.1:c.3294C>T
ENST00000680294.1:c.3420C>T	ENSP00000506113.1:p.Pro1140=
ENST00000680358.1:n.2926C>T
ENST00000680470.1:c.*1408C>T	ENSP00000505975.1:n.*1408C>T
ENST00000680554.1:c.*160C>T	ENSP00000505621.1:n.*160C>T
ENST00000680576.1:n.5103C>T
ENST00000680599.1:n.3668C>T
ENST00000680742.1:c.*160C>T	ENSP00000505206.1:n.*160C>T
ENST00000680791.1:n.2511C>T
ENST00000680885.1:n.5329C>T
ENST00000681158.1:c.3211C>T
ENST00000681203.1:c.3555C>T	ENSP00000506456.1:p.Pro1185=
ENST00000681371.1:n.3499C>T
ENST00000681425.1:n.4105C>T
ENST00000681639.1:n.1906C>T
ENST00000328194.7:c.3627C>T	ENSP00000328524.3:p.Pro1209=
ENST00000525784.5:c.563C>T
ENST00000527700.5:n.3189C>T
ENST00000528725.5:c.323C>T
ENST00000529977.5:n.1528C>T
ENST00000530044.5:c.3627C>T	ENSP00000435866.1:p.Pro1209=
ENST00000531747.1:c.863C>T
ENST00000533737.5:c.290C>T
NM_001243254.1:c.3627C>T	NP_001230183.1:p.Pro1209=
NM_015213.3:c.3627C>T	NP_056028.2:p.Pro1209=
XM_005252832.1:c.3627C>T	XP_005252889.1:p.Pro1209=
XM_011519952.1:c.3627C>T	XP_011518254.1:p.Pro1209=
XM_011519953.1:c.1725C>T	XP_011518255.1:p.Pro575=
XR_242782.2:n.3809C>T
XR_930851.1:n.3809C>T
NM_001348749.1:c.3555C>T	NP_001335678.1:p.Pro1185=
NM_001348750.1:c.3339C>T	NP_001335679.1:p.Pro1113=
NR_145966.2:n.3801C>T
NM_015213.4:c.3627C>T MANE Select	NP_056028.2:p.Pro1209=
NM_001243254.2:c.3627C>T	NP_001230183.1:p.Pro1209=
NM_001348749.2:c.3555C>T	NP_001335678.1:p.Pro1185=
NM_001348750.2:c.3339C>T	NP_001335679.1:p.Pro1113=