Canonical Allele Identifier: CA379598217

Gene: DENND5A

Linked Data

• dbSNP Id: rs1344486389
• gnomAD v2: 11-9163643-G-A
• gnomAD v4: 11-9142096-G-A
• MyVariant Identifiers: chr11:g.9163643G>A (hg19) ; chr11:g.9142096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142096G>A , CM000673.2:g.9142096G>A	GRCh38
NC_000011.9:g.9163643G>A , CM000673.1:g.9163643G>A	GRCh37
NC_000011.8:g.9120219G>A	NCBI36
NG_053019.1:g.128240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3524C>T MANE Select	ENSP00000328524.3:p.Thr1175Ile
ENST00000525784.6:n.1386C>T
ENST00000530780.2:c.*3350C>T	ENSP00000433925.1:n.*3350C>T
ENST00000531747.2:n.3195C>T
ENST00000679446.1:n.3445C>T
ENST00000679458.1:n.4925C>T
ENST00000679460.1:n.4586C>T
ENST00000679568.1:c.3524C>T	ENSP00000505860.1:p.Thr1175Ile
ENST00000679745.1:n.4029C>T
ENST00000679773.1:n.2685C>T
ENST00000679926.1:n.4826C>T
ENST00000679999.1:c.*581C>T	ENSP00000505198.1:n.*581C>T
ENST00000680252.1:c.3191C>T
ENST00000680294.1:c.3317C>T	ENSP00000506113.1:p.Thr1106Ile
ENST00000680358.1:n.2823C>T
ENST00000680470.1:c.*1305C>T	ENSP00000505975.1:n.*1305C>T
ENST00000680554.1:c.*57C>T	ENSP00000505621.1:n.*57C>T
ENST00000680576.1:n.5000C>T
ENST00000680599.1:n.3565C>T
ENST00000680742.1:c.*57C>T	ENSP00000505206.1:n.*57C>T
ENST00000680791.1:n.2408C>T
ENST00000680885.1:n.5226C>T
ENST00000681158.1:c.3108C>T
ENST00000681203.1:c.3452C>T	ENSP00000506456.1:p.Thr1151Ile
ENST00000681371.1:n.3396C>T
ENST00000681425.1:n.4002C>T
ENST00000681639.1:n.1803C>T
ENST00000328194.7:c.3524C>T	ENSP00000328524.3:p.Thr1175Ile
ENST00000525784.5:c.460C>T
ENST00000527700.5:n.3086C>T
ENST00000528725.5:c.220C>T
ENST00000529977.5:n.1425C>T
ENST00000530044.5:c.3524C>T	ENSP00000435866.1:p.Thr1175Ile
ENST00000531747.1:c.760C>T
ENST00000533737.5:c.187C>T
NM_001243254.1:c.3524C>T	NP_001230183.1:p.Thr1175Ile
NM_015213.3:c.3524C>T	NP_056028.2:p.Thr1175Ile
XM_005252832.1:c.3524C>T	XP_005252889.1:p.Thr1175Ile
XM_011519952.1:c.3524C>T	XP_011518254.1:p.Thr1175Ile
XM_011519953.1:c.1622C>T	XP_011518255.1:p.Thr541Ile
XR_242782.2:n.3706C>T
XR_930851.1:n.3706C>T
NM_001348749.1:c.3452C>T	NP_001335678.1:p.Thr1151Ile
NM_001348750.1:c.3236C>T	NP_001335679.1:p.Thr1079Ile
NR_145966.2:n.3698C>T
NM_015213.4:c.3524C>T MANE Select	NP_056028.2:p.Thr1175Ile
NM_001243254.2:c.3524C>T	NP_001230183.1:p.Thr1175Ile
NM_001348749.2:c.3452C>T	NP_001335678.1:p.Thr1151Ile
NM_001348750.2:c.3236C>T	NP_001335679.1:p.Thr1079Ile