Canonical Allele Identifier: CA217536227

Gene: DENND5A

Linked Data

• dbSNP Id: rs1002649378
• gnomAD v4: 11-9141803-G-A
• MyVariant Identifiers: chr11:g.9163350G>A (hg19) ; chr11:g.9141803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141803G>A , CM000673.2:g.9141803G>A	GRCh38
NC_000011.9:g.9163350G>A , CM000673.1:g.9163350G>A	GRCh37
NC_000011.8:g.9119926G>A	NCBI36
NG_053019.1:g.128533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3680+137C>T MANE Select	ENSP00000328524.3:n.3680+137C>T
ENST00000525784.6:n.1542+137C>T
ENST00000530780.2:c.*3506+137C>T	ENSP00000433925.1:n.*3506+137C>T
ENST00000531747.2:n.3351+137C>T
ENST00000679446.1:n.3738C>T
ENST00000679458.1:n.5081+137C>T
ENST00000679460.1:n.4742+137C>T
ENST00000679568.1:c.3680+137C>T	ENSP00000505860.1:n.3680+137C>T
ENST00000679745.1:n.4185+137C>T
ENST00000679773.1:n.2841+137C>T
ENST00000679926.1:n.4982+137C>T
ENST00000679999.1:c.*737+137C>T	ENSP00000505198.1:n.*737+137C>T
ENST00000680252.1:c.3347+137C>T
ENST00000680294.1:c.3473+137C>T	ENSP00000506113.1:n.3473+137C>T
ENST00000680358.1:n.2979+137C>T
ENST00000680470.1:c.*1461+137C>T	ENSP00000505975.1:n.*1461+137C>T
ENST00000680554.1:c.*213+137C>T	ENSP00000505621.1:n.*213+137C>T
ENST00000680576.1:n.5293C>T
ENST00000680599.1:n.3721+137C>T
ENST00000680742.1:c.*179+171C>T	ENSP00000505206.1:n.*179+171C>T
ENST00000680791.1:n.2564+137C>T
ENST00000680885.1:n.5382+137C>T
ENST00000681158.1:c.3264+137C>T
ENST00000681203.1:c.3608+137C>T	ENSP00000506456.1:n.3608+137C>T
ENST00000681371.1:n.3552+137C>T
ENST00000681425.1:n.4158+137C>T
ENST00000681639.1:n.1959+137C>T
ENST00000328194.7:c.3680+137C>T	ENSP00000328524.3:n.3680+137C>T
ENST00000525784.5:c.616+137C>T
ENST00000527700.5:n.3242+137C>T
ENST00000528725.5:c.376+137C>T
ENST00000529977.5:n.1581+137C>T
ENST00000530044.5:c.3646+171C>T	ENSP00000435866.1:n.3646+171C>T
ENST00000533737.5:c.343+137C>T
NM_001243254.1:c.3646+171C>T	NP_001230183.1:n.3646+171C>T
NM_015213.3:c.3680+137C>T	NP_056028.2:n.3680+137C>T
XM_005252832.1:c.3680+137C>T	XP_005252889.1:n.3680+137C>T
XM_011519952.1:c.3646+171C>T	XP_011518254.1:n.3646+171C>T
XM_011519953.1:c.1778+137C>T	XP_011518255.1:n.1778+137C>T
XR_242782.2:n.3862+137C>T
XR_930851.1:n.3828+171C>T
NM_001348749.1:c.3608+137C>T	NP_001335678.1:n.3608+137C>T
NM_001348750.1:c.3392+137C>T	NP_001335679.1:n.3392+137C>T
NR_145966.2:n.3854+137C>T
NM_015213.4:c.3680+137C>T MANE Select	NP_056028.2:n.3680+137C>T
NM_001243254.2:c.3646+171C>T	NP_001230183.1:n.3646+171C>T
NM_001348749.2:c.3608+137C>T	NP_001335678.1:n.3608+137C>T
NM_001348750.2:c.3392+137C>T	NP_001335679.1:n.3392+137C>T