Canonical Allele Identifier: CA379598026

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142061-G-T
• MyVariant Identifiers: chr11:g.9163608G>T (hg19) ; chr11:g.9142061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142061G>T , CM000673.2:g.9142061G>T	GRCh38
NC_000011.9:g.9163608G>T , CM000673.1:g.9163608G>T	GRCh37
NC_000011.8:g.9120184G>T	NCBI36
NG_053019.1:g.128275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3559C>A MANE Select	ENSP00000328524.3:p.Pro1187Thr
ENST00000525784.6:n.1421C>A
ENST00000530780.2:c.*3385C>A	ENSP00000433925.1:n.*3385C>A
ENST00000531747.2:n.3230C>A
ENST00000679446.1:n.3480C>A
ENST00000679458.1:n.4960C>A
ENST00000679460.1:n.4621C>A
ENST00000679568.1:c.3559C>A	ENSP00000505860.1:p.Pro1187Thr
ENST00000679745.1:n.4064C>A
ENST00000679773.1:n.2720C>A
ENST00000679926.1:n.4861C>A
ENST00000679999.1:c.*616C>A	ENSP00000505198.1:n.*616C>A
ENST00000680252.1:c.3226C>A
ENST00000680294.1:c.3352C>A	ENSP00000506113.1:p.Pro1118Thr
ENST00000680358.1:n.2858C>A
ENST00000680470.1:c.*1340C>A	ENSP00000505975.1:n.*1340C>A
ENST00000680554.1:c.*92C>A	ENSP00000505621.1:n.*92C>A
ENST00000680576.1:n.5035C>A
ENST00000680599.1:n.3600C>A
ENST00000680742.1:c.*92C>A	ENSP00000505206.1:n.*92C>A
ENST00000680791.1:n.2443C>A
ENST00000680885.1:n.5261C>A
ENST00000681158.1:c.3143C>A
ENST00000681203.1:c.3487C>A	ENSP00000506456.1:p.Pro1163Thr
ENST00000681371.1:n.3431C>A
ENST00000681425.1:n.4037C>A
ENST00000681639.1:n.1838C>A
ENST00000328194.7:c.3559C>A	ENSP00000328524.3:p.Pro1187Thr
ENST00000525784.5:c.495C>A
ENST00000527700.5:n.3121C>A
ENST00000528725.5:c.255C>A
ENST00000529977.5:n.1460C>A
ENST00000530044.5:c.3559C>A	ENSP00000435866.1:p.Pro1187Thr
ENST00000531747.1:c.795C>A
ENST00000533737.5:c.222C>A
NM_001243254.1:c.3559C>A	NP_001230183.1:p.Pro1187Thr
NM_015213.3:c.3559C>A	NP_056028.2:p.Pro1187Thr
XM_005252832.1:c.3559C>A	XP_005252889.1:p.Pro1187Thr
XM_011519952.1:c.3559C>A	XP_011518254.1:p.Pro1187Thr
XM_011519953.1:c.1657C>A	XP_011518255.1:p.Pro553Thr
XR_242782.2:n.3741C>A
XR_930851.1:n.3741C>A
NM_001348749.1:c.3487C>A	NP_001335678.1:p.Pro1163Thr
NM_001348750.1:c.3271C>A	NP_001335679.1:p.Pro1091Thr
NR_145966.2:n.3733C>A
NM_015213.4:c.3559C>A MANE Select	NP_056028.2:p.Pro1187Thr
NM_001243254.2:c.3559C>A	NP_001230183.1:p.Pro1187Thr
NM_001348749.2:c.3487C>A	NP_001335678.1:p.Pro1163Thr
NM_001348750.2:c.3271C>A	NP_001335679.1:p.Pro1091Thr