Canonical Allele Identifier: CA379597654

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142016-C-T
• MyVariant Identifiers: chr11:g.9163563C>T (hg19) ; chr11:g.9142016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142016C>T , CM000673.2:g.9142016C>T	GRCh38
NC_000011.9:g.9163563C>T , CM000673.1:g.9163563C>T	GRCh37
NC_000011.8:g.9120139C>T	NCBI36
NG_053019.1:g.128320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3604G>A MANE Select	ENSP00000328524.3:p.Val1202Ile
ENST00000525784.6:n.1466G>A
ENST00000530780.2:c.*3430G>A	ENSP00000433925.1:n.*3430G>A
ENST00000531747.2:n.3275G>A
ENST00000679446.1:n.3525G>A
ENST00000679458.1:n.5005G>A
ENST00000679460.1:n.4666G>A
ENST00000679568.1:c.3604G>A	ENSP00000505860.1:p.Val1202Ile
ENST00000679745.1:n.4109G>A
ENST00000679773.1:n.2765G>A
ENST00000679926.1:n.4906G>A
ENST00000679999.1:c.*661G>A	ENSP00000505198.1:n.*661G>A
ENST00000680252.1:c.3271G>A
ENST00000680294.1:c.3397G>A	ENSP00000506113.1:p.Val1133Ile
ENST00000680358.1:n.2903G>A
ENST00000680470.1:c.*1385G>A	ENSP00000505975.1:n.*1385G>A
ENST00000680554.1:c.*137G>A	ENSP00000505621.1:n.*137G>A
ENST00000680576.1:n.5080G>A
ENST00000680599.1:n.3645G>A
ENST00000680742.1:c.*137G>A	ENSP00000505206.1:n.*137G>A
ENST00000680791.1:n.2488G>A
ENST00000680885.1:n.5306G>A
ENST00000681158.1:c.3188G>A
ENST00000681203.1:c.3532G>A	ENSP00000506456.1:p.Val1178Ile
ENST00000681371.1:n.3476G>A
ENST00000681425.1:n.4082G>A
ENST00000681639.1:n.1883G>A
ENST00000328194.7:c.3604G>A	ENSP00000328524.3:p.Val1202Ile
ENST00000525784.5:c.540G>A
ENST00000527700.5:n.3166G>A
ENST00000528725.5:c.300G>A
ENST00000529977.5:n.1505G>A
ENST00000530044.5:c.3604G>A	ENSP00000435866.1:p.Val1202Ile
ENST00000531747.1:c.840G>A
ENST00000533737.5:c.267G>A
NM_001243254.1:c.3604G>A	NP_001230183.1:p.Val1202Ile
NM_015213.3:c.3604G>A	NP_056028.2:p.Val1202Ile
XM_005252832.1:c.3604G>A	XP_005252889.1:p.Val1202Ile
XM_011519952.1:c.3604G>A	XP_011518254.1:p.Val1202Ile
XM_011519953.1:c.1702G>A	XP_011518255.1:p.Val568Ile
XR_242782.2:n.3786G>A
XR_930851.1:n.3786G>A
NM_001348749.1:c.3532G>A	NP_001335678.1:p.Val1178Ile
NM_001348750.1:c.3316G>A	NP_001335679.1:p.Val1106Ile
NR_145966.2:n.3778G>A
NM_015213.4:c.3604G>A MANE Select	NP_056028.2:p.Val1202Ile
NM_001243254.2:c.3604G>A	NP_001230183.1:p.Val1202Ile
NM_001348749.2:c.3532G>A	NP_001335678.1:p.Val1178Ile
NM_001348750.2:c.3316G>A	NP_001335679.1:p.Val1106Ile