Canonical Allele Identifier: CA217536272

Gene: DENND5A

Linked Data

• dbSNP Id: rs765484540
• gnomAD v4: 11-9141943-G-A
• MyVariant Identifiers: chr11:g.9163490G>A (hg19) ; chr11:g.9141943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141943G>A , CM000673.2:g.9141943G>A	GRCh38
NC_000011.9:g.9163490G>A , CM000673.1:g.9163490G>A	GRCh37
NC_000011.8:g.9120066G>A	NCBI36
NG_053019.1:g.128393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3677C>T MANE Select	ENSP00000328524.3:p.Ala1226Val
ENST00000525784.6:n.1539C>T
ENST00000530780.2:c.*3503C>T	ENSP00000433925.1:n.*3503C>T
ENST00000531747.2:n.3348C>T
ENST00000679446.1:n.3598C>T
ENST00000679458.1:n.5078C>T
ENST00000679460.1:n.4739C>T
ENST00000679568.1:c.3677C>T	ENSP00000505860.1:p.Ala1226Val
ENST00000679745.1:n.4182C>T
ENST00000679773.1:n.2838C>T
ENST00000679926.1:n.4979C>T
ENST00000679999.1:c.*734C>T	ENSP00000505198.1:n.*734C>T
ENST00000680252.1:c.3344C>T
ENST00000680294.1:c.3470C>T	ENSP00000506113.1:p.Ala1157Val
ENST00000680358.1:n.2976C>T
ENST00000680470.1:c.*1458C>T	ENSP00000505975.1:n.*1458C>T
ENST00000680554.1:c.*210C>T	ENSP00000505621.1:n.*210C>T
ENST00000680576.1:n.5153C>T
ENST00000680599.1:n.3718C>T
ENST00000680742.1:c.*179+31C>T	ENSP00000505206.1:n.*179+31C>T
ENST00000680791.1:n.2561C>T
ENST00000680885.1:n.5379C>T
ENST00000681158.1:c.3261C>T
ENST00000681203.1:c.3605C>T	ENSP00000506456.1:p.Ala1202Val
ENST00000681371.1:n.3549C>T
ENST00000681425.1:n.4155C>T
ENST00000681639.1:n.1956C>T
ENST00000328194.7:c.3677C>T	ENSP00000328524.3:p.Ala1226Val
ENST00000525784.5:c.613C>T
ENST00000527700.5:n.3239C>T
ENST00000528725.5:c.373C>T
ENST00000529977.5:n.1578C>T
ENST00000530044.5:c.3646+31C>T	ENSP00000435866.1:n.3646+31C>T
ENST00000531747.1:c.913C>T
ENST00000533737.5:c.340C>T
NM_001243254.1:c.3646+31C>T	NP_001230183.1:n.3646+31C>T
NM_015213.3:c.3677C>T	NP_056028.2:p.Ala1226Val
XM_005252832.1:c.3677C>T	XP_005252889.1:p.Ala1226Val
XM_011519952.1:c.3646+31C>T	XP_011518254.1:n.3646+31C>T
XM_011519953.1:c.1775C>T	XP_011518255.1:p.Ala592Val
XR_242782.2:n.3859C>T
XR_930851.1:n.3828+31C>T
NM_001348749.1:c.3605C>T	NP_001335678.1:p.Ala1202Val
NM_001348750.1:c.3389C>T	NP_001335679.1:p.Ala1130Val
NR_145966.2:n.3851C>T
NM_015213.4:c.3677C>T MANE Select	NP_056028.2:p.Ala1226Val
NM_001243254.2:c.3646+31C>T	NP_001230183.1:n.3646+31C>T
NM_001348749.2:c.3605C>T	NP_001335678.1:p.Ala1202Val
NM_001348750.2:c.3389C>T	NP_001335679.1:p.Ala1130Val