Canonical Allele Identifier: CA379597215

Gene: DENND5A

Linked Data

• dbSNP Id: rs1183167809
• gnomAD v2: 11-9163509-T-C
• gnomAD v4: 11-9141962-T-C
• MyVariant Identifiers: chr11:g.9163509T>C (hg19) ; chr11:g.9141962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141962T>C , CM000673.2:g.9141962T>C	GRCh38
NC_000011.9:g.9163509T>C , CM000673.1:g.9163509T>C	GRCh37
NC_000011.8:g.9120085T>C	NCBI36
NG_053019.1:g.128374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3658A>G MANE Select	ENSP00000328524.3:p.Met1220Val
ENST00000525784.6:n.1520A>G
ENST00000530780.2:c.*3484A>G	ENSP00000433925.1:n.*3484A>G
ENST00000531747.2:n.3329A>G
ENST00000679446.1:n.3579A>G
ENST00000679458.1:n.5059A>G
ENST00000679460.1:n.4720A>G
ENST00000679568.1:c.3658A>G	ENSP00000505860.1:p.Met1220Val
ENST00000679745.1:n.4163A>G
ENST00000679773.1:n.2819A>G
ENST00000679926.1:n.4960A>G
ENST00000679999.1:c.*715A>G	ENSP00000505198.1:n.*715A>G
ENST00000680252.1:c.3325A>G
ENST00000680294.1:c.3451A>G	ENSP00000506113.1:p.Met1151Val
ENST00000680358.1:n.2957A>G
ENST00000680470.1:c.*1439A>G	ENSP00000505975.1:n.*1439A>G
ENST00000680554.1:c.*191A>G	ENSP00000505621.1:n.*191A>G
ENST00000680576.1:n.5134A>G
ENST00000680599.1:n.3699A>G
ENST00000680742.1:c.*179+12A>G	ENSP00000505206.1:n.*179+12A>G
ENST00000680791.1:n.2542A>G
ENST00000680885.1:n.5360A>G
ENST00000681158.1:c.3242A>G
ENST00000681203.1:c.3586A>G	ENSP00000506456.1:p.Met1196Val
ENST00000681371.1:n.3530A>G
ENST00000681425.1:n.4136A>G
ENST00000681639.1:n.1937A>G
ENST00000328194.7:c.3658A>G	ENSP00000328524.3:p.Met1220Val
ENST00000525784.5:c.594A>G
ENST00000527700.5:n.3220A>G
ENST00000528725.5:c.354A>G
ENST00000529977.5:n.1559A>G
ENST00000530044.5:c.3646+12A>G	ENSP00000435866.1:n.3646+12A>G
ENST00000531747.1:c.894A>G
ENST00000533737.5:c.321A>G
NM_001243254.1:c.3646+12A>G	NP_001230183.1:n.3646+12A>G
NM_015213.3:c.3658A>G	NP_056028.2:p.Met1220Val
XM_005252832.1:c.3658A>G	XP_005252889.1:p.Met1220Val
XM_011519952.1:c.3646+12A>G	XP_011518254.1:n.3646+12A>G
XM_011519953.1:c.1756A>G	XP_011518255.1:p.Met586Val
XR_242782.2:n.3840A>G
XR_930851.1:n.3828+12A>G
NM_001348749.1:c.3586A>G	NP_001335678.1:p.Met1196Val
NM_001348750.1:c.3370A>G	NP_001335679.1:p.Met1124Val
NR_145966.2:n.3832A>G
NM_015213.4:c.3658A>G MANE Select	NP_056028.2:p.Met1220Val
NM_001243254.2:c.3646+12A>G	NP_001230183.1:n.3646+12A>G
NM_001348749.2:c.3586A>G	NP_001335678.1:p.Met1196Val
NM_001348750.2:c.3370A>G	NP_001335679.1:p.Met1124Val