Canonical Allele Identifier: CA379597197

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141959-G-T
• MyVariant Identifiers: chr11:g.9163506G>T (hg19) ; chr11:g.9141959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141959G>T , CM000673.2:g.9141959G>T	GRCh38
NC_000011.9:g.9163506G>T , CM000673.1:g.9163506G>T	GRCh37
NC_000011.8:g.9120082G>T	NCBI36
NG_053019.1:g.128377C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3661C>A MANE Select	ENSP00000328524.3:p.Leu1221Met
ENST00000525784.6:n.1523C>A
ENST00000530780.2:c.*3487C>A	ENSP00000433925.1:n.*3487C>A
ENST00000531747.2:n.3332C>A
ENST00000679446.1:n.3582C>A
ENST00000679458.1:n.5062C>A
ENST00000679460.1:n.4723C>A
ENST00000679568.1:c.3661C>A	ENSP00000505860.1:p.Leu1221Met
ENST00000679745.1:n.4166C>A
ENST00000679773.1:n.2822C>A
ENST00000679926.1:n.4963C>A
ENST00000679999.1:c.*718C>A	ENSP00000505198.1:n.*718C>A
ENST00000680252.1:c.3328C>A
ENST00000680294.1:c.3454C>A	ENSP00000506113.1:p.Leu1152Met
ENST00000680358.1:n.2960C>A
ENST00000680470.1:c.*1442C>A	ENSP00000505975.1:n.*1442C>A
ENST00000680554.1:c.*194C>A	ENSP00000505621.1:n.*194C>A
ENST00000680576.1:n.5137C>A
ENST00000680599.1:n.3702C>A
ENST00000680742.1:c.*179+15C>A	ENSP00000505206.1:n.*179+15C>A
ENST00000680791.1:n.2545C>A
ENST00000680885.1:n.5363C>A
ENST00000681158.1:c.3245C>A
ENST00000681203.1:c.3589C>A	ENSP00000506456.1:p.Leu1197Met
ENST00000681371.1:n.3533C>A
ENST00000681425.1:n.4139C>A
ENST00000681639.1:n.1940C>A
ENST00000328194.7:c.3661C>A	ENSP00000328524.3:p.Leu1221Met
ENST00000525784.5:c.597C>A
ENST00000527700.5:n.3223C>A
ENST00000528725.5:c.357C>A
ENST00000529977.5:n.1562C>A
ENST00000530044.5:c.3646+15C>A	ENSP00000435866.1:n.3646+15C>A
ENST00000531747.1:c.897C>A
ENST00000533737.5:c.324C>A
NM_001243254.1:c.3646+15C>A	NP_001230183.1:n.3646+15C>A
NM_015213.3:c.3661C>A	NP_056028.2:p.Leu1221Met
XM_005252832.1:c.3661C>A	XP_005252889.1:p.Leu1221Met
XM_011519952.1:c.3646+15C>A	XP_011518254.1:n.3646+15C>A
XM_011519953.1:c.1759C>A	XP_011518255.1:p.Leu587Met
XR_242782.2:n.3843C>A
XR_930851.1:n.3828+15C>A
NM_001348749.1:c.3589C>A	NP_001335678.1:p.Leu1197Met
NM_001348750.1:c.3373C>A	NP_001335679.1:p.Leu1125Met
NR_145966.2:n.3835C>A
NM_015213.4:c.3661C>A MANE Select	NP_056028.2:p.Leu1221Met
NM_001243254.2:c.3646+15C>A	NP_001230183.1:n.3646+15C>A
NM_001348749.2:c.3589C>A	NP_001335678.1:p.Leu1197Met
NM_001348750.2:c.3373C>A	NP_001335679.1:p.Leu1125Met