Canonical Allele Identifier: CA379599772

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2107907
• ClinVar RCV Id: RCV003029335
• dbSNP Id: rs148784597
• gnomAD v2: 11-9225676-C-G
• gnomAD v4: 11-9204129-C-G
• MyVariant Identifiers: chr11:g.9225676C>G (hg19) ; chr11:g.9204129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204129C>G , CM000673.2:g.9204129C>G	GRCh38
NC_000011.9:g.9225676C>G , CM000673.1:g.9225676C>G	GRCh37
NC_000011.8:g.9182252C>G	NCBI36
NG_053019.1:g.66207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.480G>C MANE Select	ENSP00000328524.3:p.Glu160Asp
ENST00000530780.2:c.*306G>C	ENSP00000433925.1:n.*306G>C
ENST00000530867.2:n.269G>C
ENST00000532696.2:n.403G>C
ENST00000679446.1:n.401G>C
ENST00000679460.1:n.269G>C
ENST00000679568.1:c.480G>C	ENSP00000505860.1:p.Glu160Asp
ENST00000679745.1:n.269G>C
ENST00000679999.1:c.480G>C	ENSP00000505198.1:p.Glu160Asp
ENST00000680252.1:c.269G>C
ENST00000680294.1:c.480G>C	ENSP00000506113.1:p.Glu160Asp
ENST00000680470.1:c.480G>C	ENSP00000505975.1:p.Glu160Asp
ENST00000680554.1:c.192G>C	ENSP00000505621.1:p.Glu64Asp
ENST00000680576.1:n.269G>C
ENST00000680599.1:n.397G>C
ENST00000680742.1:c.480G>C	ENSP00000505206.1:p.Glu160Asp
ENST00000680885.1:n.401G>C
ENST00000681158.1:c.269G>C
ENST00000681173.1:n.269G>C
ENST00000681203.1:c.408G>C	ENSP00000506456.1:p.Glu136Asp
ENST00000681425.1:n.401G>C
ENST00000681915.1:n.269G>C
ENST00000328194.7:c.480G>C	ENSP00000328524.3:p.Glu160Asp
ENST00000526707.5:c.408G>C	ENSP00000436780.1:p.Glu136Asp
ENST00000530044.5:c.480G>C	ENSP00000435866.1:p.Glu160Asp
ENST00000530780.1:c.*306G>C	ENSP00000433925.1:n.*306G>C
ENST00000532696.1:n.235G>C
NM_001243254.1:c.480G>C	NP_001230183.1:p.Glu160Asp
NM_015213.3:c.480G>C	NP_056028.2:p.Glu160Asp
XM_005252832.1:c.480G>C	XP_005252889.1:p.Glu160Asp
XM_011519952.1:c.480G>C	XP_011518254.1:p.Glu160Asp
XR_242782.2:n.745G>C
XR_930851.1:n.745G>C
XR_930852.1:n.745G>C
XR_930853.1:n.745G>C
NM_001348749.1:c.408G>C	NP_001335678.1:p.Glu136Asp
NM_001348750.1:c.192G>C	NP_001335679.1:p.Glu64Asp
NR_145966.2:n.737G>C
NM_015213.4:c.480G>C MANE Select	NP_056028.2:p.Glu160Asp
NM_001243254.2:c.480G>C	NP_001230183.1:p.Glu160Asp
NM_001348749.2:c.408G>C	NP_001335678.1:p.Glu136Asp
NM_001348750.2:c.192G>C	NP_001335679.1:p.Glu64Asp