Canonical Allele Identifier: CA379597751

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163575A>G (hg19) ; chr11:g.9142028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142028A>G , CM000673.2:g.9142028A>G	GRCh38
NC_000011.9:g.9163575A>G , CM000673.1:g.9163575A>G	GRCh37
NC_000011.8:g.9120151A>G	NCBI36
NG_053019.1:g.128308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3592T>C MANE Select	ENSP00000328524.3:p.Phe1198Leu
ENST00000525784.6:n.1454T>C
ENST00000530780.2:c.*3418T>C	ENSP00000433925.1:n.*3418T>C
ENST00000531747.2:n.3263T>C
ENST00000679446.1:n.3513T>C
ENST00000679458.1:n.4993T>C
ENST00000679460.1:n.4654T>C
ENST00000679568.1:c.3592T>C	ENSP00000505860.1:p.Phe1198Leu
ENST00000679745.1:n.4097T>C
ENST00000679773.1:n.2753T>C
ENST00000679926.1:n.4894T>C
ENST00000679999.1:c.*649T>C	ENSP00000505198.1:n.*649T>C
ENST00000680252.1:c.3259T>C
ENST00000680294.1:c.3385T>C	ENSP00000506113.1:p.Phe1129Leu
ENST00000680358.1:n.2891T>C
ENST00000680470.1:c.*1373T>C	ENSP00000505975.1:n.*1373T>C
ENST00000680554.1:c.*125T>C	ENSP00000505621.1:n.*125T>C
ENST00000680576.1:n.5068T>C
ENST00000680599.1:n.3633T>C
ENST00000680742.1:c.*125T>C	ENSP00000505206.1:n.*125T>C
ENST00000680791.1:n.2476T>C
ENST00000680885.1:n.5294T>C
ENST00000681158.1:c.3176T>C
ENST00000681203.1:c.3520T>C	ENSP00000506456.1:p.Phe1174Leu
ENST00000681371.1:n.3464T>C
ENST00000681425.1:n.4070T>C
ENST00000681639.1:n.1871T>C
ENST00000328194.7:c.3592T>C	ENSP00000328524.3:p.Phe1198Leu
ENST00000525784.5:c.528T>C
ENST00000527700.5:n.3154T>C
ENST00000528725.5:c.288T>C
ENST00000529977.5:n.1493T>C
ENST00000530044.5:c.3592T>C	ENSP00000435866.1:p.Phe1198Leu
ENST00000531747.1:c.828T>C
ENST00000533737.5:c.255T>C
NM_001243254.1:c.3592T>C	NP_001230183.1:p.Phe1198Leu
NM_015213.3:c.3592T>C	NP_056028.2:p.Phe1198Leu
XM_005252832.1:c.3592T>C	XP_005252889.1:p.Phe1198Leu
XM_011519952.1:c.3592T>C	XP_011518254.1:p.Phe1198Leu
XM_011519953.1:c.1690T>C	XP_011518255.1:p.Phe564Leu
XR_242782.2:n.3774T>C
XR_930851.1:n.3774T>C
NM_001348749.1:c.3520T>C	NP_001335678.1:p.Phe1174Leu
NM_001348750.1:c.3304T>C	NP_001335679.1:p.Phe1102Leu
NR_145966.2:n.3766T>C
NM_015213.4:c.3592T>C MANE Select	NP_056028.2:p.Phe1198Leu
NM_001243254.2:c.3592T>C	NP_001230183.1:p.Phe1198Leu
NM_001348749.2:c.3520T>C	NP_001335678.1:p.Phe1174Leu
NM_001348750.2:c.3304T>C	NP_001335679.1:p.Phe1102Leu