Canonical Allele Identifier: CA379597148

Gene: DENND5A

Linked Data

• dbSNP Id: rs1554909068
• gnomAD v4: 11-9141951-G-T
• MyVariant Identifiers: chr11:g.9163498G>T (hg19) ; chr11:g.9141951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141951G>T , CM000673.2:g.9141951G>T	GRCh38
NC_000011.9:g.9163498G>T , CM000673.1:g.9163498G>T	GRCh37
NC_000011.8:g.9120074G>T	NCBI36
NG_053019.1:g.128385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3669C>A MANE Select	ENSP00000328524.3:p.Cys1223Ter
ENST00000525784.6:n.1531C>A
ENST00000530780.2:c.*3495C>A	ENSP00000433925.1:n.*3495C>A
ENST00000531747.2:n.3340C>A
ENST00000679446.1:n.3590C>A
ENST00000679458.1:n.5070C>A
ENST00000679460.1:n.4731C>A
ENST00000679568.1:c.3669C>A	ENSP00000505860.1:p.Cys1223Ter
ENST00000679745.1:n.4174C>A
ENST00000679773.1:n.2830C>A
ENST00000679926.1:n.4971C>A
ENST00000679999.1:c.*726C>A	ENSP00000505198.1:n.*726C>A
ENST00000680252.1:c.3336C>A
ENST00000680294.1:c.3462C>A	ENSP00000506113.1:p.Cys1154Ter
ENST00000680358.1:n.2968C>A
ENST00000680470.1:c.*1450C>A	ENSP00000505975.1:n.*1450C>A
ENST00000680554.1:c.*202C>A	ENSP00000505621.1:n.*202C>A
ENST00000680576.1:n.5145C>A
ENST00000680599.1:n.3710C>A
ENST00000680742.1:c.*179+23C>A	ENSP00000505206.1:n.*179+23C>A
ENST00000680791.1:n.2553C>A
ENST00000680885.1:n.5371C>A
ENST00000681158.1:c.3253C>A
ENST00000681203.1:c.3597C>A	ENSP00000506456.1:p.Cys1199Ter
ENST00000681371.1:n.3541C>A
ENST00000681425.1:n.4147C>A
ENST00000681639.1:n.1948C>A
ENST00000328194.7:c.3669C>A	ENSP00000328524.3:p.Cys1223Ter
ENST00000525784.5:c.605C>A
ENST00000527700.5:n.3231C>A
ENST00000528725.5:c.365C>A
ENST00000529977.5:n.1570C>A
ENST00000530044.5:c.3646+23C>A	ENSP00000435866.1:n.3646+23C>A
ENST00000531747.1:c.905C>A
ENST00000533737.5:c.332C>A
NM_001243254.1:c.3646+23C>A	NP_001230183.1:n.3646+23C>A
NM_015213.3:c.3669C>A	NP_056028.2:p.Cys1223Ter
XM_005252832.1:c.3669C>A	XP_005252889.1:p.Cys1223Ter
XM_011519952.1:c.3646+23C>A	XP_011518254.1:n.3646+23C>A
XM_011519953.1:c.1767C>A	XP_011518255.1:p.Cys589Ter
XR_242782.2:n.3851C>A
XR_930851.1:n.3828+23C>A
NM_001348749.1:c.3597C>A	NP_001335678.1:p.Cys1199Ter
NM_001348750.1:c.3381C>A	NP_001335679.1:p.Cys1127Ter
NR_145966.2:n.3843C>A
NM_015213.4:c.3669C>A MANE Select	NP_056028.2:p.Cys1223Ter
NM_001243254.2:c.3646+23C>A	NP_001230183.1:n.3646+23C>A
NM_001348749.2:c.3597C>A	NP_001335678.1:p.Cys1199Ter
NM_001348750.2:c.3381C>A	NP_001335679.1:p.Cys1127Ter