Canonical Allele Identifier: CA379597736

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163574A>C (hg19) ; chr11:g.9142027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142027A>C , CM000673.2:g.9142027A>C	GRCh38
NC_000011.9:g.9163574A>C , CM000673.1:g.9163574A>C	GRCh37
NC_000011.8:g.9120150A>C	NCBI36
NG_053019.1:g.128309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3593T>G MANE Select	ENSP00000328524.3:p.Phe1198Cys
ENST00000525784.6:n.1455T>G
ENST00000530780.2:c.*3419T>G	ENSP00000433925.1:n.*3419T>G
ENST00000531747.2:n.3264T>G
ENST00000679446.1:n.3514T>G
ENST00000679458.1:n.4994T>G
ENST00000679460.1:n.4655T>G
ENST00000679568.1:c.3593T>G	ENSP00000505860.1:p.Phe1198Cys
ENST00000679745.1:n.4098T>G
ENST00000679773.1:n.2754T>G
ENST00000679926.1:n.4895T>G
ENST00000679999.1:c.*650T>G	ENSP00000505198.1:n.*650T>G
ENST00000680252.1:c.3260T>G
ENST00000680294.1:c.3386T>G	ENSP00000506113.1:p.Phe1129Cys
ENST00000680358.1:n.2892T>G
ENST00000680470.1:c.*1374T>G	ENSP00000505975.1:n.*1374T>G
ENST00000680554.1:c.*126T>G	ENSP00000505621.1:n.*126T>G
ENST00000680576.1:n.5069T>G
ENST00000680599.1:n.3634T>G
ENST00000680742.1:c.*126T>G	ENSP00000505206.1:n.*126T>G
ENST00000680791.1:n.2477T>G
ENST00000680885.1:n.5295T>G
ENST00000681158.1:c.3177T>G
ENST00000681203.1:c.3521T>G	ENSP00000506456.1:p.Phe1174Cys
ENST00000681371.1:n.3465T>G
ENST00000681425.1:n.4071T>G
ENST00000681639.1:n.1872T>G
ENST00000328194.7:c.3593T>G	ENSP00000328524.3:p.Phe1198Cys
ENST00000525784.5:c.529T>G
ENST00000527700.5:n.3155T>G
ENST00000528725.5:c.289T>G
ENST00000529977.5:n.1494T>G
ENST00000530044.5:c.3593T>G	ENSP00000435866.1:p.Phe1198Cys
ENST00000531747.1:c.829T>G
ENST00000533737.5:c.256T>G
NM_001243254.1:c.3593T>G	NP_001230183.1:p.Phe1198Cys
NM_015213.3:c.3593T>G	NP_056028.2:p.Phe1198Cys
XM_005252832.1:c.3593T>G	XP_005252889.1:p.Phe1198Cys
XM_011519952.1:c.3593T>G	XP_011518254.1:p.Phe1198Cys
XM_011519953.1:c.1691T>G	XP_011518255.1:p.Phe564Cys
XR_242782.2:n.3775T>G
XR_930851.1:n.3775T>G
NM_001348749.1:c.3521T>G	NP_001335678.1:p.Phe1174Cys
NM_001348750.1:c.3305T>G	NP_001335679.1:p.Phe1102Cys
NR_145966.2:n.3767T>G
NM_015213.4:c.3593T>G MANE Select	NP_056028.2:p.Phe1198Cys
NM_001243254.2:c.3593T>G	NP_001230183.1:p.Phe1198Cys
NM_001348749.2:c.3521T>G	NP_001335678.1:p.Phe1174Cys
NM_001348750.2:c.3305T>G	NP_001335679.1:p.Phe1102Cys