Canonical Allele Identifier: CA379607899

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9182301G>A (hg19) ; chr11:g.9160754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160754G>A , CM000673.2:g.9160754G>A	GRCh38
NC_000011.9:g.9182301G>A , CM000673.1:g.9182301G>A	GRCh37
NC_000011.8:g.9138877G>A	NCBI36
NG_053019.1:g.109582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2395C>T MANE Select	ENSP00000328524.3:p.Leu799Phe
ENST00000530780.2:c.*2221C>T	ENSP00000433925.1:n.*2221C>T
ENST00000679446.1:n.2316C>T
ENST00000679458.1:n.3796C>T
ENST00000679460.1:n.2184C>T
ENST00000679568.1:c.2395C>T	ENSP00000505860.1:p.Leu799Phe
ENST00000679745.1:n.2184C>T
ENST00000679926.1:n.1211C>T
ENST00000679999.1:c.2395C>T	ENSP00000505198.1:p.Leu799Phe
ENST00000680252.1:c.2184C>T
ENST00000680294.1:c.2395C>T	ENSP00000506113.1:p.Leu799Phe
ENST00000680358.1:n.1694C>T
ENST00000680470.1:c.*261C>T	ENSP00000505975.1:n.*261C>T
ENST00000680554.1:c.2107C>T	ENSP00000505621.1:p.Leu703Phe
ENST00000680576.1:n.2184C>T
ENST00000680599.1:n.2312C>T
ENST00000680742.1:c.2395C>T	ENSP00000505206.1:p.Leu799Phe
ENST00000680885.1:n.2316C>T
ENST00000681158.1:c.2184C>T
ENST00000681173.1:n.2184C>T
ENST00000681203.1:c.2323C>T	ENSP00000506456.1:p.Leu775Phe
ENST00000681425.1:n.2316C>T
ENST00000328194.7:c.2395C>T	ENSP00000328524.3:p.Leu799Phe
ENST00000526707.5:c.2323C>T	ENSP00000436780.1:p.Leu775Phe
ENST00000527700.5:n.1957C>T
ENST00000530044.5:c.2395C>T	ENSP00000435866.1:p.Leu799Phe
NM_001243254.1:c.2395C>T	NP_001230183.1:p.Leu799Phe
NM_015213.3:c.2395C>T	NP_056028.2:p.Leu799Phe
XM_005252832.1:c.2395C>T	XP_005252889.1:p.Leu799Phe
XM_011519952.1:c.2395C>T	XP_011518254.1:p.Leu799Phe
XM_011519953.1:c.493C>T	XP_011518255.1:p.Leu165Phe
XR_242782.2:n.2660C>T
XR_930851.1:n.2660C>T
XR_930852.1:n.2660C>T
XR_930853.1:n.2509C>T
NM_001348749.1:c.2323C>T	NP_001335678.1:p.Leu775Phe
NM_001348750.1:c.2107C>T	NP_001335679.1:p.Leu703Phe
NR_145966.2:n.2652C>T
NM_015213.4:c.2395C>T MANE Select	NP_056028.2:p.Leu799Phe
NM_001243254.2:c.2395C>T	NP_001230183.1:p.Leu799Phe
NM_001348749.2:c.2323C>T	NP_001335678.1:p.Leu775Phe
NM_001348750.2:c.2107C>T	NP_001335679.1:p.Leu703Phe