Canonical Allele Identifier: CA379598011

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142060-G-A
• MyVariant Identifiers: chr11:g.9163607G>A (hg19) ; chr11:g.9142060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142060G>A , CM000673.2:g.9142060G>A	GRCh38
NC_000011.9:g.9163607G>A , CM000673.1:g.9163607G>A	GRCh37
NC_000011.8:g.9120183G>A	NCBI36
NG_053019.1:g.128276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3560C>T MANE Select	ENSP00000328524.3:p.Pro1187Leu
ENST00000525784.6:n.1422C>T
ENST00000530780.2:c.*3386C>T	ENSP00000433925.1:n.*3386C>T
ENST00000531747.2:n.3231C>T
ENST00000679446.1:n.3481C>T
ENST00000679458.1:n.4961C>T
ENST00000679460.1:n.4622C>T
ENST00000679568.1:c.3560C>T	ENSP00000505860.1:p.Pro1187Leu
ENST00000679745.1:n.4065C>T
ENST00000679773.1:n.2721C>T
ENST00000679926.1:n.4862C>T
ENST00000679999.1:c.*617C>T	ENSP00000505198.1:n.*617C>T
ENST00000680252.1:c.3227C>T
ENST00000680294.1:c.3353C>T	ENSP00000506113.1:p.Pro1118Leu
ENST00000680358.1:n.2859C>T
ENST00000680470.1:c.*1341C>T	ENSP00000505975.1:n.*1341C>T
ENST00000680554.1:c.*93C>T	ENSP00000505621.1:n.*93C>T
ENST00000680576.1:n.5036C>T
ENST00000680599.1:n.3601C>T
ENST00000680742.1:c.*93C>T	ENSP00000505206.1:n.*93C>T
ENST00000680791.1:n.2444C>T
ENST00000680885.1:n.5262C>T
ENST00000681158.1:c.3144C>T
ENST00000681203.1:c.3488C>T	ENSP00000506456.1:p.Pro1163Leu
ENST00000681371.1:n.3432C>T
ENST00000681425.1:n.4038C>T
ENST00000681639.1:n.1839C>T
ENST00000328194.7:c.3560C>T	ENSP00000328524.3:p.Pro1187Leu
ENST00000525784.5:c.496C>T
ENST00000527700.5:n.3122C>T
ENST00000528725.5:c.256C>T
ENST00000529977.5:n.1461C>T
ENST00000530044.5:c.3560C>T	ENSP00000435866.1:p.Pro1187Leu
ENST00000531747.1:c.796C>T
ENST00000533737.5:c.223C>T
NM_001243254.1:c.3560C>T	NP_001230183.1:p.Pro1187Leu
NM_015213.3:c.3560C>T	NP_056028.2:p.Pro1187Leu
XM_005252832.1:c.3560C>T	XP_005252889.1:p.Pro1187Leu
XM_011519952.1:c.3560C>T	XP_011518254.1:p.Pro1187Leu
XM_011519953.1:c.1658C>T	XP_011518255.1:p.Pro553Leu
XR_242782.2:n.3742C>T
XR_930851.1:n.3742C>T
NM_001348749.1:c.3488C>T	NP_001335678.1:p.Pro1163Leu
NM_001348750.1:c.3272C>T	NP_001335679.1:p.Pro1091Leu
NR_145966.2:n.3734C>T
NM_015213.4:c.3560C>T MANE Select	NP_056028.2:p.Pro1187Leu
NM_001243254.2:c.3560C>T	NP_001230183.1:p.Pro1187Leu
NM_001348749.2:c.3488C>T	NP_001335678.1:p.Pro1163Leu
NM_001348750.2:c.3272C>T	NP_001335679.1:p.Pro1091Leu