Canonical Allele Identifier: CA379597990

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142057-T-C
• MyVariant Identifiers: chr11:g.9163604T>C (hg19) ; chr11:g.9142057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142057T>C , CM000673.2:g.9142057T>C	GRCh38
NC_000011.9:g.9163604T>C , CM000673.1:g.9163604T>C	GRCh37
NC_000011.8:g.9120180T>C	NCBI36
NG_053019.1:g.128279A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3563A>G MANE Select	ENSP00000328524.3:p.Glu1188Gly
ENST00000525784.6:n.1425A>G
ENST00000530780.2:c.*3389A>G	ENSP00000433925.1:n.*3389A>G
ENST00000531747.2:n.3234A>G
ENST00000679446.1:n.3484A>G
ENST00000679458.1:n.4964A>G
ENST00000679460.1:n.4625A>G
ENST00000679568.1:c.3563A>G	ENSP00000505860.1:p.Glu1188Gly
ENST00000679745.1:n.4068A>G
ENST00000679773.1:n.2724A>G
ENST00000679926.1:n.4865A>G
ENST00000679999.1:c.*620A>G	ENSP00000505198.1:n.*620A>G
ENST00000680252.1:c.3230A>G
ENST00000680294.1:c.3356A>G	ENSP00000506113.1:p.Glu1119Gly
ENST00000680358.1:n.2862A>G
ENST00000680470.1:c.*1344A>G	ENSP00000505975.1:n.*1344A>G
ENST00000680554.1:c.*96A>G	ENSP00000505621.1:n.*96A>G
ENST00000680576.1:n.5039A>G
ENST00000680599.1:n.3604A>G
ENST00000680742.1:c.*96A>G	ENSP00000505206.1:n.*96A>G
ENST00000680791.1:n.2447A>G
ENST00000680885.1:n.5265A>G
ENST00000681158.1:c.3147A>G
ENST00000681203.1:c.3491A>G	ENSP00000506456.1:p.Glu1164Gly
ENST00000681371.1:n.3435A>G
ENST00000681425.1:n.4041A>G
ENST00000681639.1:n.1842A>G
ENST00000328194.7:c.3563A>G	ENSP00000328524.3:p.Glu1188Gly
ENST00000525784.5:c.499A>G
ENST00000527700.5:n.3125A>G
ENST00000528725.5:c.259A>G
ENST00000529977.5:n.1464A>G
ENST00000530044.5:c.3563A>G	ENSP00000435866.1:p.Glu1188Gly
ENST00000531747.1:c.799A>G
ENST00000533737.5:c.226A>G
NM_001243254.1:c.3563A>G	NP_001230183.1:p.Glu1188Gly
NM_015213.3:c.3563A>G	NP_056028.2:p.Glu1188Gly
XM_005252832.1:c.3563A>G	XP_005252889.1:p.Glu1188Gly
XM_011519952.1:c.3563A>G	XP_011518254.1:p.Glu1188Gly
XM_011519953.1:c.1661A>G	XP_011518255.1:p.Glu554Gly
XR_242782.2:n.3745A>G
XR_930851.1:n.3745A>G
NM_001348749.1:c.3491A>G	NP_001335678.1:p.Glu1164Gly
NM_001348750.1:c.3275A>G	NP_001335679.1:p.Glu1092Gly
NR_145966.2:n.3737A>G
NM_015213.4:c.3563A>G MANE Select	NP_056028.2:p.Glu1188Gly
NM_001243254.2:c.3563A>G	NP_001230183.1:p.Glu1188Gly
NM_001348749.2:c.3491A>G	NP_001335678.1:p.Glu1164Gly
NM_001348750.2:c.3275A>G	NP_001335679.1:p.Glu1092Gly