Canonical Allele Identifier: CA217536234

Gene: DENND5A

Linked Data

• dbSNP Id: rs761881631
• gnomAD v4: 11-9141815-C-G
• MyVariant Identifiers: chr11:g.9163362C>G (hg19) ; chr11:g.9141815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141815C>G , CM000673.2:g.9141815C>G	GRCh38
NC_000011.9:g.9163362C>G , CM000673.1:g.9163362C>G	GRCh37
NC_000011.8:g.9119938C>G	NCBI36
NG_053019.1:g.128521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3680+125G>C MANE Select	ENSP00000328524.3:n.3680+125G>C
ENST00000525784.6:n.1542+125G>C
ENST00000530780.2:c.*3506+125G>C	ENSP00000433925.1:n.*3506+125G>C
ENST00000531747.2:n.3351+125G>C
ENST00000679446.1:n.3726G>C
ENST00000679458.1:n.5081+125G>C
ENST00000679460.1:n.4742+125G>C
ENST00000679568.1:c.3680+125G>C	ENSP00000505860.1:n.3680+125G>C
ENST00000679745.1:n.4185+125G>C
ENST00000679773.1:n.2841+125G>C
ENST00000679926.1:n.4982+125G>C
ENST00000679999.1:c.*737+125G>C	ENSP00000505198.1:n.*737+125G>C
ENST00000680252.1:c.3347+125G>C
ENST00000680294.1:c.3473+125G>C	ENSP00000506113.1:n.3473+125G>C
ENST00000680358.1:n.2979+125G>C
ENST00000680470.1:c.*1461+125G>C	ENSP00000505975.1:n.*1461+125G>C
ENST00000680554.1:c.*213+125G>C	ENSP00000505621.1:n.*213+125G>C
ENST00000680576.1:n.5281G>C
ENST00000680599.1:n.3721+125G>C
ENST00000680742.1:c.*179+159G>C	ENSP00000505206.1:n.*179+159G>C
ENST00000680791.1:n.2564+125G>C
ENST00000680885.1:n.5382+125G>C
ENST00000681158.1:c.3264+125G>C
ENST00000681203.1:c.3608+125G>C	ENSP00000506456.1:n.3608+125G>C
ENST00000681371.1:n.3552+125G>C
ENST00000681425.1:n.4158+125G>C
ENST00000681639.1:n.1959+125G>C
ENST00000328194.7:c.3680+125G>C	ENSP00000328524.3:n.3680+125G>C
ENST00000525784.5:c.616+125G>C
ENST00000527700.5:n.3242+125G>C
ENST00000528725.5:c.376+125G>C
ENST00000529977.5:n.1581+125G>C
ENST00000530044.5:c.3646+159G>C	ENSP00000435866.1:n.3646+159G>C
ENST00000533737.5:c.343+125G>C
NM_001243254.1:c.3646+159G>C	NP_001230183.1:n.3646+159G>C
NM_015213.3:c.3680+125G>C	NP_056028.2:n.3680+125G>C
XM_005252832.1:c.3680+125G>C	XP_005252889.1:n.3680+125G>C
XM_011519952.1:c.3646+159G>C	XP_011518254.1:n.3646+159G>C
XM_011519953.1:c.1778+125G>C	XP_011518255.1:n.1778+125G>C
XR_242782.2:n.3862+125G>C
XR_930851.1:n.3828+159G>C
NM_001348749.1:c.3608+125G>C	NP_001335678.1:n.3608+125G>C
NM_001348750.1:c.3392+125G>C	NP_001335679.1:n.3392+125G>C
NR_145966.2:n.3854+125G>C
NM_015213.4:c.3680+125G>C MANE Select	NP_056028.2:n.3680+125G>C
NM_001243254.2:c.3646+159G>C	NP_001230183.1:n.3646+159G>C
NM_001348749.2:c.3608+125G>C	NP_001335678.1:n.3608+125G>C
NM_001348750.2:c.3392+125G>C	NP_001335679.1:n.3392+125G>C