Canonical Allele Identifier: CA379597696

Gene: DENND5A

Linked Data

• dbSNP Id: rs1554909101
• gnomAD v4: 11-9142022-G-A
• MyVariant Identifiers: chr11:g.9163569G>A (hg19) ; chr11:g.9142022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142022G>A , CM000673.2:g.9142022G>A	GRCh38
NC_000011.9:g.9163569G>A , CM000673.1:g.9163569G>A	GRCh37
NC_000011.8:g.9120145G>A	NCBI36
NG_053019.1:g.128314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3598C>T MANE Select	ENSP00000328524.3:p.Arg1200Ter
ENST00000525784.6:n.1460C>T
ENST00000530780.2:c.*3424C>T	ENSP00000433925.1:n.*3424C>T
ENST00000531747.2:n.3269C>T
ENST00000679446.1:n.3519C>T
ENST00000679458.1:n.4999C>T
ENST00000679460.1:n.4660C>T
ENST00000679568.1:c.3598C>T	ENSP00000505860.1:p.Arg1200Ter
ENST00000679745.1:n.4103C>T
ENST00000679773.1:n.2759C>T
ENST00000679926.1:n.4900C>T
ENST00000679999.1:c.*655C>T	ENSP00000505198.1:n.*655C>T
ENST00000680252.1:c.3265C>T
ENST00000680294.1:c.3391C>T	ENSP00000506113.1:p.Arg1131Ter
ENST00000680358.1:n.2897C>T
ENST00000680470.1:c.*1379C>T	ENSP00000505975.1:n.*1379C>T
ENST00000680554.1:c.*131C>T	ENSP00000505621.1:n.*131C>T
ENST00000680576.1:n.5074C>T
ENST00000680599.1:n.3639C>T
ENST00000680742.1:c.*131C>T	ENSP00000505206.1:n.*131C>T
ENST00000680791.1:n.2482C>T
ENST00000680885.1:n.5300C>T
ENST00000681158.1:c.3182C>T
ENST00000681203.1:c.3526C>T	ENSP00000506456.1:p.Arg1176Ter
ENST00000681371.1:n.3470C>T
ENST00000681425.1:n.4076C>T
ENST00000681639.1:n.1877C>T
ENST00000328194.7:c.3598C>T	ENSP00000328524.3:p.Arg1200Ter
ENST00000525784.5:c.534C>T
ENST00000527700.5:n.3160C>T
ENST00000528725.5:c.294C>T
ENST00000529977.5:n.1499C>T
ENST00000530044.5:c.3598C>T	ENSP00000435866.1:p.Arg1200Ter
ENST00000531747.1:c.834C>T
ENST00000533737.5:c.261C>T
NM_001243254.1:c.3598C>T	NP_001230183.1:p.Arg1200Ter
NM_015213.3:c.3598C>T	NP_056028.2:p.Arg1200Ter
XM_005252832.1:c.3598C>T	XP_005252889.1:p.Arg1200Ter
XM_011519952.1:c.3598C>T	XP_011518254.1:p.Arg1200Ter
XM_011519953.1:c.1696C>T	XP_011518255.1:p.Arg566Ter
XR_242782.2:n.3780C>T
XR_930851.1:n.3780C>T
NM_001348749.1:c.3526C>T	NP_001335678.1:p.Arg1176Ter
NM_001348750.1:c.3310C>T	NP_001335679.1:p.Arg1104Ter
NR_145966.2:n.3772C>T
NM_015213.4:c.3598C>T MANE Select	NP_056028.2:p.Arg1200Ter
NM_001243254.2:c.3598C>T	NP_001230183.1:p.Arg1200Ter
NM_001348749.2:c.3526C>T	NP_001335678.1:p.Arg1176Ter
NM_001348750.2:c.3310C>T	NP_001335679.1:p.Arg1104Ter