Canonical Allele Identifier: CA379597712

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142024-C-T
• MyVariant Identifiers: chr11:g.9163571C>T (hg19) ; chr11:g.9142024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142024C>T , CM000673.2:g.9142024C>T	GRCh38
NC_000011.9:g.9163571C>T , CM000673.1:g.9163571C>T	GRCh37
NC_000011.8:g.9120147C>T	NCBI36
NG_053019.1:g.128312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3596G>A MANE Select	ENSP00000328524.3:p.Cys1199Tyr
ENST00000525784.6:n.1458G>A
ENST00000530780.2:c.*3422G>A	ENSP00000433925.1:n.*3422G>A
ENST00000531747.2:n.3267G>A
ENST00000679446.1:n.3517G>A
ENST00000679458.1:n.4997G>A
ENST00000679460.1:n.4658G>A
ENST00000679568.1:c.3596G>A	ENSP00000505860.1:p.Cys1199Tyr
ENST00000679745.1:n.4101G>A
ENST00000679773.1:n.2757G>A
ENST00000679926.1:n.4898G>A
ENST00000679999.1:c.*653G>A	ENSP00000505198.1:n.*653G>A
ENST00000680252.1:c.3263G>A
ENST00000680294.1:c.3389G>A	ENSP00000506113.1:p.Cys1130Tyr
ENST00000680358.1:n.2895G>A
ENST00000680470.1:c.*1377G>A	ENSP00000505975.1:n.*1377G>A
ENST00000680554.1:c.*129G>A	ENSP00000505621.1:n.*129G>A
ENST00000680576.1:n.5072G>A
ENST00000680599.1:n.3637G>A
ENST00000680742.1:c.*129G>A	ENSP00000505206.1:n.*129G>A
ENST00000680791.1:n.2480G>A
ENST00000680885.1:n.5298G>A
ENST00000681158.1:c.3180G>A
ENST00000681203.1:c.3524G>A	ENSP00000506456.1:p.Cys1175Tyr
ENST00000681371.1:n.3468G>A
ENST00000681425.1:n.4074G>A
ENST00000681639.1:n.1875G>A
ENST00000328194.7:c.3596G>A	ENSP00000328524.3:p.Cys1199Tyr
ENST00000525784.5:c.532G>A
ENST00000527700.5:n.3158G>A
ENST00000528725.5:c.292G>A
ENST00000529977.5:n.1497G>A
ENST00000530044.5:c.3596G>A	ENSP00000435866.1:p.Cys1199Tyr
ENST00000531747.1:c.832G>A
ENST00000533737.5:c.259G>A
NM_001243254.1:c.3596G>A	NP_001230183.1:p.Cys1199Tyr
NM_015213.3:c.3596G>A	NP_056028.2:p.Cys1199Tyr
XM_005252832.1:c.3596G>A	XP_005252889.1:p.Cys1199Tyr
XM_011519952.1:c.3596G>A	XP_011518254.1:p.Cys1199Tyr
XM_011519953.1:c.1694G>A	XP_011518255.1:p.Cys565Tyr
XR_242782.2:n.3778G>A
XR_930851.1:n.3778G>A
NM_001348749.1:c.3524G>A	NP_001335678.1:p.Cys1175Tyr
NM_001348750.1:c.3308G>A	NP_001335679.1:p.Cys1103Tyr
NR_145966.2:n.3770G>A
NM_015213.4:c.3596G>A MANE Select	NP_056028.2:p.Cys1199Tyr
NM_001243254.2:c.3596G>A	NP_001230183.1:p.Cys1199Tyr
NM_001348749.2:c.3524G>A	NP_001335678.1:p.Cys1175Tyr
NM_001348750.2:c.3308G>A	NP_001335679.1:p.Cys1103Tyr