Canonical Allele Identifier: CA379598131

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142081-A-G
• MyVariant Identifiers: chr11:g.9163628A>G (hg19) ; chr11:g.9142081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142081A>G , CM000673.2:g.9142081A>G	GRCh38
NC_000011.9:g.9163628A>G , CM000673.1:g.9163628A>G	GRCh37
NC_000011.8:g.9120204A>G	NCBI36
NG_053019.1:g.128255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3539T>C MANE Select	ENSP00000328524.3:p.Leu1180Ser
ENST00000525784.6:n.1401T>C
ENST00000530780.2:c.*3365T>C	ENSP00000433925.1:n.*3365T>C
ENST00000531747.2:n.3210T>C
ENST00000679446.1:n.3460T>C
ENST00000679458.1:n.4940T>C
ENST00000679460.1:n.4601T>C
ENST00000679568.1:c.3539T>C	ENSP00000505860.1:p.Leu1180Ser
ENST00000679745.1:n.4044T>C
ENST00000679773.1:n.2700T>C
ENST00000679926.1:n.4841T>C
ENST00000679999.1:c.*596T>C	ENSP00000505198.1:n.*596T>C
ENST00000680252.1:c.3206T>C
ENST00000680294.1:c.3332T>C	ENSP00000506113.1:p.Leu1111Ser
ENST00000680358.1:n.2838T>C
ENST00000680470.1:c.*1320T>C	ENSP00000505975.1:n.*1320T>C
ENST00000680554.1:c.*72T>C	ENSP00000505621.1:n.*72T>C
ENST00000680576.1:n.5015T>C
ENST00000680599.1:n.3580T>C
ENST00000680742.1:c.*72T>C	ENSP00000505206.1:n.*72T>C
ENST00000680791.1:n.2423T>C
ENST00000680885.1:n.5241T>C
ENST00000681158.1:c.3123T>C
ENST00000681203.1:c.3467T>C	ENSP00000506456.1:p.Leu1156Ser
ENST00000681371.1:n.3411T>C
ENST00000681425.1:n.4017T>C
ENST00000681639.1:n.1818T>C
ENST00000328194.7:c.3539T>C	ENSP00000328524.3:p.Leu1180Ser
ENST00000525784.5:c.475T>C
ENST00000527700.5:n.3101T>C
ENST00000528725.5:c.235T>C
ENST00000529977.5:n.1440T>C
ENST00000530044.5:c.3539T>C	ENSP00000435866.1:p.Leu1180Ser
ENST00000531747.1:c.775T>C
ENST00000533737.5:c.202T>C
NM_001243254.1:c.3539T>C	NP_001230183.1:p.Leu1180Ser
NM_015213.3:c.3539T>C	NP_056028.2:p.Leu1180Ser
XM_005252832.1:c.3539T>C	XP_005252889.1:p.Leu1180Ser
XM_011519952.1:c.3539T>C	XP_011518254.1:p.Leu1180Ser
XM_011519953.1:c.1637T>C	XP_011518255.1:p.Leu546Ser
XR_242782.2:n.3721T>C
XR_930851.1:n.3721T>C
NM_001348749.1:c.3467T>C	NP_001335678.1:p.Leu1156Ser
NM_001348750.1:c.3251T>C	NP_001335679.1:p.Leu1084Ser
NR_145966.2:n.3713T>C
NM_015213.4:c.3539T>C MANE Select	NP_056028.2:p.Leu1180Ser
NM_001243254.2:c.3539T>C	NP_001230183.1:p.Leu1180Ser
NM_001348749.2:c.3467T>C	NP_001335678.1:p.Leu1156Ser
NM_001348750.2:c.3251T>C	NP_001335679.1:p.Leu1084Ser