Canonical Allele Identifier: CA2612401042

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9160584-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160584A>C , CM000673.2:g.9160584A>C	GRCh38
NC_000011.9:g.9182131A>C , CM000673.1:g.9182131A>C	GRCh37
NC_000011.8:g.9138707A>C	NCBI36
NG_053019.1:g.109752T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2436+129T>G MANE Select	ENSP00000328524.3:n.2436+129T>G
ENST00000530780.2:c.*2262+129T>G	ENSP00000433925.1:n.*2262+129T>G
ENST00000679446.1:n.2357+129T>G
ENST00000679458.1:n.3837+129T>G
ENST00000679460.1:n.2225+129T>G
ENST00000679568.1:c.2436+129T>G	ENSP00000505860.1:n.2436+129T>G
ENST00000679745.1:n.2225+129T>G
ENST00000679926.1:n.1252+129T>G
ENST00000679999.1:c.2436+129T>G	ENSP00000505198.1:n.2436+129T>G
ENST00000680252.1:c.2225+129T>G
ENST00000680294.1:c.2436+129T>G	ENSP00000506113.1:n.2436+129T>G
ENST00000680358.1:n.1735+129T>G
ENST00000680470.1:c.*302+129T>G	ENSP00000505975.1:n.*302+129T>G
ENST00000680554.1:c.2148+129T>G	ENSP00000505621.1:n.2148+129T>G
ENST00000680576.1:n.2225+129T>G
ENST00000680599.1:n.2353+129T>G
ENST00000680742.1:c.2436+129T>G	ENSP00000505206.1:n.2436+129T>G
ENST00000680885.1:n.2357+129T>G
ENST00000681158.1:c.2225+129T>G
ENST00000681173.1:n.2225+129T>G
ENST00000681203.1:c.2364+129T>G	ENSP00000506456.1:n.2364+129T>G
ENST00000681425.1:n.2357+129T>G
ENST00000328194.7:c.2436+129T>G	ENSP00000328524.3:n.2436+129T>G
ENST00000526707.5:c.2364+129T>G	ENSP00000436780.1:n.2364+129T>G
ENST00000527700.5:n.1998+129T>G
ENST00000530044.5:c.2436+129T>G	ENSP00000435866.1:n.2436+129T>G
NM_001243254.1:c.2436+129T>G	NP_001230183.1:n.2436+129T>G
NM_015213.3:c.2436+129T>G	NP_056028.2:n.2436+129T>G
XM_005252832.1:c.2436+129T>G	XP_005252889.1:n.2436+129T>G
XM_011519952.1:c.2436+129T>G	XP_011518254.1:n.2436+129T>G
XM_011519953.1:c.534+129T>G	XP_011518255.1:n.534+129T>G
XR_242782.2:n.2701+129T>G
XR_930851.1:n.2701+129T>G
XR_930852.1:n.2701+129T>G
XR_930853.1:n.2550+129T>G
NM_001348749.1:c.2364+129T>G	NP_001335678.1:n.2364+129T>G
NM_001348750.1:c.2148+129T>G	NP_001335679.1:n.2148+129T>G
NR_145966.2:n.2693+129T>G
NM_015213.4:c.2436+129T>G MANE Select	NP_056028.2:n.2436+129T>G
NM_001243254.2:c.2436+129T>G	NP_001230183.1:n.2436+129T>G
NM_001348749.2:c.2364+129T>G	NP_001335678.1:n.2364+129T>G
NM_001348750.2:c.2148+129T>G	NP_001335679.1:n.2148+129T>G