Canonical Allele Identifier: CA934967462

Gene: DENND5A

Linked Data

• dbSNP Id: rs1847946213
• gnomAD v3: 11-9160579-A-G
• gnomAD v4: 11-9160579-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160579A>G , CM000673.2:g.9160579A>G	GRCh38
NC_000011.9:g.9182126A>G , CM000673.1:g.9182126A>G	GRCh37
NC_000011.8:g.9138702A>G	NCBI36
NG_053019.1:g.109757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2436+134T>C MANE Select	ENSP00000328524.3:n.2436+134T>C
ENST00000530780.2:c.*2262+134T>C	ENSP00000433925.1:n.*2262+134T>C
ENST00000679446.1:n.2357+134T>C
ENST00000679458.1:n.3837+134T>C
ENST00000679460.1:n.2225+134T>C
ENST00000679568.1:c.2436+134T>C	ENSP00000505860.1:n.2436+134T>C
ENST00000679745.1:n.2225+134T>C
ENST00000679926.1:n.1252+134T>C
ENST00000679999.1:c.2436+134T>C	ENSP00000505198.1:n.2436+134T>C
ENST00000680252.1:c.2225+134T>C
ENST00000680294.1:c.2436+134T>C	ENSP00000506113.1:n.2436+134T>C
ENST00000680358.1:n.1735+134T>C
ENST00000680470.1:c.*302+134T>C	ENSP00000505975.1:n.*302+134T>C
ENST00000680554.1:c.2148+134T>C	ENSP00000505621.1:n.2148+134T>C
ENST00000680576.1:n.2225+134T>C
ENST00000680599.1:n.2353+134T>C
ENST00000680742.1:c.2436+134T>C	ENSP00000505206.1:n.2436+134T>C
ENST00000680885.1:n.2357+134T>C
ENST00000681158.1:c.2225+134T>C
ENST00000681173.1:n.2225+134T>C
ENST00000681203.1:c.2364+134T>C	ENSP00000506456.1:n.2364+134T>C
ENST00000681425.1:n.2357+134T>C
ENST00000328194.7:c.2436+134T>C	ENSP00000328524.3:n.2436+134T>C
ENST00000526707.5:c.2364+134T>C	ENSP00000436780.1:n.2364+134T>C
ENST00000527700.5:n.1998+134T>C
ENST00000530044.5:c.2436+134T>C	ENSP00000435866.1:n.2436+134T>C
NM_001243254.1:c.2436+134T>C	NP_001230183.1:n.2436+134T>C
NM_015213.3:c.2436+134T>C	NP_056028.2:n.2436+134T>C
XM_005252832.1:c.2436+134T>C	XP_005252889.1:n.2436+134T>C
XM_011519952.1:c.2436+134T>C	XP_011518254.1:n.2436+134T>C
XM_011519953.1:c.534+134T>C	XP_011518255.1:n.534+134T>C
XR_242782.2:n.2701+134T>C
XR_930851.1:n.2701+134T>C
XR_930852.1:n.2701+134T>C
XR_930853.1:n.2550+134T>C
NM_001348749.1:c.2364+134T>C	NP_001335678.1:n.2364+134T>C
NM_001348750.1:c.2148+134T>C	NP_001335679.1:n.2148+134T>C
NR_145966.2:n.2693+134T>C
NM_015213.4:c.2436+134T>C MANE Select	NP_056028.2:n.2436+134T>C
NM_001243254.2:c.2436+134T>C	NP_001230183.1:n.2436+134T>C
NM_001348749.2:c.2364+134T>C	NP_001335678.1:n.2364+134T>C
NM_001348750.2:c.2148+134T>C	NP_001335679.1:n.2148+134T>C