Canonical Allele Identifier: CA473040225

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142014-G-A
• MyVariant Identifiers: chr11:g.9163561G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142014G>A , CM000673.2:g.9142014G>A	GRCh38
NC_000011.9:g.9163561G>A , CM000673.1:g.9163561G>A	GRCh37
NC_000011.8:g.9120137G>A	NCBI36
NG_053019.1:g.128322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3606C>T MANE Select	ENSP00000328524.3:p.Val1202=
ENST00000525784.6:n.1468C>T
ENST00000530780.2:c.*3432C>T	ENSP00000433925.1:n.*3432C>T
ENST00000531747.2:n.3277C>T
ENST00000679446.1:n.3527C>T
ENST00000679458.1:n.5007C>T
ENST00000679460.1:n.4668C>T
ENST00000679568.1:c.3606C>T	ENSP00000505860.1:p.Val1202=
ENST00000679745.1:n.4111C>T
ENST00000679773.1:n.2767C>T
ENST00000679926.1:n.4908C>T
ENST00000679999.1:c.*663C>T	ENSP00000505198.1:n.*663C>T
ENST00000680252.1:c.3273C>T
ENST00000680294.1:c.3399C>T	ENSP00000506113.1:p.Val1133=
ENST00000680358.1:n.2905C>T
ENST00000680470.1:c.*1387C>T	ENSP00000505975.1:n.*1387C>T
ENST00000680554.1:c.*139C>T	ENSP00000505621.1:n.*139C>T
ENST00000680576.1:n.5082C>T
ENST00000680599.1:n.3647C>T
ENST00000680742.1:c.*139C>T	ENSP00000505206.1:n.*139C>T
ENST00000680791.1:n.2490C>T
ENST00000680885.1:n.5308C>T
ENST00000681158.1:c.3190C>T
ENST00000681203.1:c.3534C>T	ENSP00000506456.1:p.Val1178=
ENST00000681371.1:n.3478C>T
ENST00000681425.1:n.4084C>T
ENST00000681639.1:n.1885C>T
ENST00000328194.7:c.3606C>T	ENSP00000328524.3:p.Val1202=
ENST00000525784.5:c.542C>T
ENST00000527700.5:n.3168C>T
ENST00000528725.5:c.302C>T
ENST00000529977.5:n.1507C>T
ENST00000530044.5:c.3606C>T	ENSP00000435866.1:p.Val1202=
ENST00000531747.1:c.842C>T
ENST00000533737.5:c.269C>T
NM_001243254.1:c.3606C>T	NP_001230183.1:p.Val1202=
NM_015213.3:c.3606C>T	NP_056028.2:p.Val1202=
XM_005252832.1:c.3606C>T	XP_005252889.1:p.Val1202=
XM_011519952.1:c.3606C>T	XP_011518254.1:p.Val1202=
XM_011519953.1:c.1704C>T	XP_011518255.1:p.Val568=
XR_242782.2:n.3788C>T
XR_930851.1:n.3788C>T
NM_001348749.1:c.3534C>T	NP_001335678.1:p.Val1178=
NM_001348750.1:c.3318C>T	NP_001335679.1:p.Val1106=
NR_145966.2:n.3780C>T
NM_015213.4:c.3606C>T MANE Select	NP_056028.2:p.Val1202=
NM_001243254.2:c.3606C>T	NP_001230183.1:p.Val1202=
NM_001348749.2:c.3534C>T	NP_001335678.1:p.Val1178=
NM_001348750.2:c.3318C>T	NP_001335679.1:p.Val1106=