Canonical Allele Identifier: CA2580084064

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2047105
• ClinVar RCV Id: RCV002926767
• gnomAD v4: 11-9204331-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204331C>G , CM000673.2:g.9204331C>G	GRCh38
NC_000011.9:g.9225878C>G , CM000673.1:g.9225878C>G	GRCh37
NC_000011.8:g.9182454C>G	NCBI36
NG_053019.1:g.66005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.292-14G>C MANE Select	ENSP00000328524.3:n.292-14G>C
ENST00000530780.2:c.*118-14G>C	ENSP00000433925.1:n.*118-14G>C
ENST00000530867.2:n.81-14G>C
ENST00000532696.2:n.215-14G>C
ENST00000679446.1:n.213-14G>C
ENST00000679460.1:n.81-14G>C
ENST00000679568.1:c.292-14G>C	ENSP00000505860.1:n.292-14G>C
ENST00000679745.1:n.81-14G>C
ENST00000679999.1:c.292-14G>C	ENSP00000505198.1:n.292-14G>C
ENST00000680252.1:c.81-14G>C
ENST00000680294.1:c.292-14G>C	ENSP00000506113.1:n.292-14G>C
ENST00000680470.1:c.292-14G>C	ENSP00000505975.1:n.292-14G>C
ENST00000680554.1:c.4-14G>C	ENSP00000505621.1:n.4-14G>C
ENST00000680576.1:n.81-14G>C
ENST00000680599.1:n.209-14G>C
ENST00000680742.1:c.292-14G>C	ENSP00000505206.1:n.292-14G>C
ENST00000680885.1:n.213-14G>C
ENST00000681158.1:c.81-14G>C
ENST00000681173.1:n.81-14G>C
ENST00000681203.1:c.220-14G>C	ENSP00000506456.1:n.220-14G>C
ENST00000681425.1:n.213-14G>C
ENST00000681915.1:n.81-14G>C
ENST00000328194.7:c.292-14G>C	ENSP00000328524.3:n.292-14G>C
ENST00000526707.5:c.220-14G>C	ENSP00000436780.1:n.220-14G>C
ENST00000530044.5:c.292-14G>C	ENSP00000435866.1:n.292-14G>C
ENST00000530780.1:c.*118-14G>C	ENSP00000433925.1:n.*118-14G>C
ENST00000532696.1:n.47-14G>C
NM_001243254.1:c.292-14G>C	NP_001230183.1:n.292-14G>C
NM_015213.3:c.292-14G>C	NP_056028.2:n.292-14G>C
XM_005252832.1:c.292-14G>C	XP_005252889.1:n.292-14G>C
XM_011519952.1:c.292-14G>C	XP_011518254.1:n.292-14G>C
XR_242782.2:n.557-14G>C
XR_930851.1:n.557-14G>C
XR_930852.1:n.557-14G>C
XR_930853.1:n.557-14G>C
NM_001348749.1:c.220-14G>C	NP_001335678.1:n.220-14G>C
NM_001348750.1:c.4-14G>C	NP_001335679.1:n.4-14G>C
NR_145966.2:n.549-14G>C
NM_015213.4:c.292-14G>C MANE Select	NP_056028.2:n.292-14G>C
NM_001243254.2:c.292-14G>C	NP_001230183.1:n.292-14G>C
NM_001348749.2:c.220-14G>C	NP_001335678.1:n.220-14G>C
NM_001348750.2:c.4-14G>C	NP_001335679.1:n.4-14G>C