Canonical Allele Identifier: CA5876987

Gene: DENND5A

Linked Data

• dbSNP Id: rs749820312
• ExAC: 11:9163508 A / G
• gnomAD v2: 11-9163508-A-G
• gnomAD v3: 11-9141961-A-G
• gnomAD v4: 11-9141961-A-G
• MyVariant Identifiers: chr11:g.9163508A>G (hg19) ; chr11:g.9141961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141961A>G , CM000673.2:g.9141961A>G	GRCh38
NC_000011.9:g.9163508A>G , CM000673.1:g.9163508A>G	GRCh37
NC_000011.8:g.9120084A>G	NCBI36
NG_053019.1:g.128375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3659T>C MANE Select	ENSP00000328524.3:p.Met1220Thr
ENST00000525784.6:n.1521T>C
ENST00000530780.2:c.*3485T>C	ENSP00000433925.1:n.*3485T>C
ENST00000531747.2:n.3330T>C
ENST00000679446.1:n.3580T>C
ENST00000679458.1:n.5060T>C
ENST00000679460.1:n.4721T>C
ENST00000679568.1:c.3659T>C	ENSP00000505860.1:p.Met1220Thr
ENST00000679745.1:n.4164T>C
ENST00000679773.1:n.2820T>C
ENST00000679926.1:n.4961T>C
ENST00000679999.1:c.*716T>C	ENSP00000505198.1:n.*716T>C
ENST00000680252.1:c.3326T>C
ENST00000680294.1:c.3452T>C	ENSP00000506113.1:p.Met1151Thr
ENST00000680358.1:n.2958T>C
ENST00000680470.1:c.*1440T>C	ENSP00000505975.1:n.*1440T>C
ENST00000680554.1:c.*192T>C	ENSP00000505621.1:n.*192T>C
ENST00000680576.1:n.5135T>C
ENST00000680599.1:n.3700T>C
ENST00000680742.1:c.*179+13T>C	ENSP00000505206.1:n.*179+13T>C
ENST00000680791.1:n.2543T>C
ENST00000680885.1:n.5361T>C
ENST00000681158.1:c.3243T>C
ENST00000681203.1:c.3587T>C	ENSP00000506456.1:p.Met1196Thr
ENST00000681371.1:n.3531T>C
ENST00000681425.1:n.4137T>C
ENST00000681639.1:n.1938T>C
ENST00000328194.7:c.3659T>C	ENSP00000328524.3:p.Met1220Thr
ENST00000525784.5:c.595T>C
ENST00000527700.5:n.3221T>C
ENST00000528725.5:c.355T>C
ENST00000529977.5:n.1560T>C
ENST00000530044.5:c.3646+13T>C	ENSP00000435866.1:n.3646+13T>C
ENST00000531747.1:c.895T>C
ENST00000533737.5:c.322T>C
NM_001243254.1:c.3646+13T>C	NP_001230183.1:n.3646+13T>C
NM_015213.3:c.3659T>C	NP_056028.2:p.Met1220Thr
XM_005252832.1:c.3659T>C	XP_005252889.1:p.Met1220Thr
XM_011519952.1:c.3646+13T>C	XP_011518254.1:n.3646+13T>C
XM_011519953.1:c.1757T>C	XP_011518255.1:p.Met586Thr
XR_242782.2:n.3841T>C
XR_930851.1:n.3828+13T>C
NM_001348749.1:c.3587T>C	NP_001335678.1:p.Met1196Thr
NM_001348750.1:c.3371T>C	NP_001335679.1:p.Met1124Thr
NR_145966.2:n.3833T>C
NM_015213.4:c.3659T>C MANE Select	NP_056028.2:p.Met1220Thr
NM_001243254.2:c.3646+13T>C	NP_001230183.1:n.3646+13T>C
NM_001348749.2:c.3587T>C	NP_001335678.1:p.Met1196Thr
NM_001348750.2:c.3371T>C	NP_001335679.1:p.Met1124Thr