Canonical Allele Identifier: CA379598158

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142086-C-A
• MyVariant Identifiers: chr11:g.9163633C>A (hg19) ; chr11:g.9142086C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142086C>A , CM000673.2:g.9142086C>A	GRCh38
NC_000011.9:g.9163633C>A , CM000673.1:g.9163633C>A	GRCh37
NC_000011.8:g.9120209C>A	NCBI36
NG_053019.1:g.128250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3534G>T MANE Select	ENSP00000328524.3:p.Glu1178Asp
ENST00000525784.6:n.1396G>T
ENST00000530780.2:c.*3360G>T	ENSP00000433925.1:n.*3360G>T
ENST00000531747.2:n.3205G>T
ENST00000679446.1:n.3455G>T
ENST00000679458.1:n.4935G>T
ENST00000679460.1:n.4596G>T
ENST00000679568.1:c.3534G>T	ENSP00000505860.1:p.Glu1178Asp
ENST00000679745.1:n.4039G>T
ENST00000679773.1:n.2695G>T
ENST00000679926.1:n.4836G>T
ENST00000679999.1:c.*591G>T	ENSP00000505198.1:n.*591G>T
ENST00000680252.1:c.3201G>T
ENST00000680294.1:c.3327G>T	ENSP00000506113.1:p.Glu1109Asp
ENST00000680358.1:n.2833G>T
ENST00000680470.1:c.*1315G>T	ENSP00000505975.1:n.*1315G>T
ENST00000680554.1:c.*67G>T	ENSP00000505621.1:n.*67G>T
ENST00000680576.1:n.5010G>T
ENST00000680599.1:n.3575G>T
ENST00000680742.1:c.*67G>T	ENSP00000505206.1:n.*67G>T
ENST00000680791.1:n.2418G>T
ENST00000680885.1:n.5236G>T
ENST00000681158.1:c.3118G>T
ENST00000681203.1:c.3462G>T	ENSP00000506456.1:p.Glu1154Asp
ENST00000681371.1:n.3406G>T
ENST00000681425.1:n.4012G>T
ENST00000681639.1:n.1813G>T
ENST00000328194.7:c.3534G>T	ENSP00000328524.3:p.Glu1178Asp
ENST00000525784.5:c.470G>T
ENST00000527700.5:n.3096G>T
ENST00000528725.5:c.230G>T
ENST00000529977.5:n.1435G>T
ENST00000530044.5:c.3534G>T	ENSP00000435866.1:p.Glu1178Asp
ENST00000531747.1:c.770G>T
ENST00000533737.5:c.197G>T
NM_001243254.1:c.3534G>T	NP_001230183.1:p.Glu1178Asp
NM_015213.3:c.3534G>T	NP_056028.2:p.Glu1178Asp
XM_005252832.1:c.3534G>T	XP_005252889.1:p.Glu1178Asp
XM_011519952.1:c.3534G>T	XP_011518254.1:p.Glu1178Asp
XM_011519953.1:c.1632G>T	XP_011518255.1:p.Glu544Asp
XR_242782.2:n.3716G>T
XR_930851.1:n.3716G>T
NM_001348749.1:c.3462G>T	NP_001335678.1:p.Glu1154Asp
NM_001348750.1:c.3246G>T	NP_001335679.1:p.Glu1082Asp
NR_145966.2:n.3708G>T
NM_015213.4:c.3534G>T MANE Select	NP_056028.2:p.Glu1178Asp
NM_001243254.2:c.3534G>T	NP_001230183.1:p.Glu1178Asp
NM_001348749.2:c.3462G>T	NP_001335678.1:p.Glu1154Asp
NM_001348750.2:c.3246G>T	NP_001335679.1:p.Glu1082Asp