Canonical Allele Identifier: CA473040188

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141951-G-A
• MyVariant Identifiers: chr11:g.9163498G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3669C>T MANE Select	ENSP00000328524.3:p.Cys1223=
ENST00000525784.6:n.1531C>T
ENST00000530780.2:c.*3495C>T	ENSP00000433925.1:n.*3495C>T
ENST00000531747.2:n.3340C>T
ENST00000679446.1:n.3590C>T
ENST00000679458.1:n.5070C>T
ENST00000679460.1:n.4731C>T
ENST00000679568.1:c.3669C>T	ENSP00000505860.1:p.Cys1223=
ENST00000679745.1:n.4174C>T
ENST00000679773.1:n.2830C>T
ENST00000679926.1:n.4971C>T
ENST00000679999.1:c.*726C>T	ENSP00000505198.1:n.*726C>T
ENST00000680252.1:c.3336C>T
ENST00000680294.1:c.3462C>T	ENSP00000506113.1:p.Cys1154=
ENST00000680358.1:n.2968C>T
ENST00000680470.1:c.*1450C>T	ENSP00000505975.1:n.*1450C>T
ENST00000680554.1:c.*202C>T	ENSP00000505621.1:n.*202C>T
ENST00000680576.1:n.5145C>T
ENST00000680599.1:n.3710C>T
ENST00000680742.1:c.*179+23C>T	ENSP00000505206.1:n.*179+23C>T
ENST00000680791.1:n.2553C>T
ENST00000680885.1:n.5371C>T
ENST00000681158.1:c.3253C>T
ENST00000681203.1:c.3597C>T	ENSP00000506456.1:p.Cys1199=
ENST00000681371.1:n.3541C>T
ENST00000681425.1:n.4147C>T
ENST00000681639.1:n.1948C>T
ENST00000328194.7:c.3669C>T	ENSP00000328524.3:p.Cys1223=
ENST00000525784.5:c.605C>T
ENST00000527700.5:n.3231C>T
ENST00000528725.5:c.365C>T
ENST00000529977.5:n.1570C>T
ENST00000530044.5:c.3646+23C>T	ENSP00000435866.1:n.3646+23C>T
ENST00000531747.1:c.905C>T
ENST00000533737.5:c.332C>T
NM_001243254.1:c.3646+23C>T	NP_001230183.1:n.3646+23C>T
NM_015213.3:c.3669C>T	NP_056028.2:p.Cys1223=
XM_005252832.1:c.3669C>T	XP_005252889.1:p.Cys1223=
XM_011519952.1:c.3646+23C>T	XP_011518254.1:n.3646+23C>T
XM_011519953.1:c.1767C>T	XP_011518255.1:p.Cys589=
XR_242782.2:n.3851C>T
XR_930851.1:n.3828+23C>T
NM_001348749.1:c.3597C>T	NP_001335678.1:p.Cys1199=
NM_001348750.1:c.3381C>T	NP_001335679.1:p.Cys1127=
NR_145966.2:n.3843C>T
NM_015213.4:c.3669C>T MANE Select	NP_056028.2:p.Cys1223=
NM_001243254.2:c.3646+23C>T	NP_001230183.1:n.3646+23C>T
NM_001348749.2:c.3597C>T	NP_001335678.1:p.Cys1199=
NM_001348750.2:c.3381C>T	NP_001335679.1:p.Cys1127=