Canonical Allele Identifier: CA379597261

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163514A>G (hg19) ; chr11:g.9141967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141967A>G , CM000673.2:g.9141967A>G	GRCh38
NC_000011.9:g.9163514A>G , CM000673.1:g.9163514A>G	GRCh37
NC_000011.8:g.9120090A>G	NCBI36
NG_053019.1:g.128369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3653T>C MANE Select	ENSP00000328524.3:p.Phe1218Ser
ENST00000525784.6:n.1515T>C
ENST00000530780.2:c.*3479T>C	ENSP00000433925.1:n.*3479T>C
ENST00000531747.2:n.3324T>C
ENST00000679446.1:n.3574T>C
ENST00000679458.1:n.5054T>C
ENST00000679460.1:n.4715T>C
ENST00000679568.1:c.3653T>C	ENSP00000505860.1:p.Phe1218Ser
ENST00000679745.1:n.4158T>C
ENST00000679773.1:n.2814T>C
ENST00000679926.1:n.4955T>C
ENST00000679999.1:c.*710T>C	ENSP00000505198.1:n.*710T>C
ENST00000680252.1:c.3320T>C
ENST00000680294.1:c.3446T>C	ENSP00000506113.1:p.Phe1149Ser
ENST00000680358.1:n.2952T>C
ENST00000680470.1:c.*1434T>C	ENSP00000505975.1:n.*1434T>C
ENST00000680554.1:c.*186T>C	ENSP00000505621.1:n.*186T>C
ENST00000680576.1:n.5129T>C
ENST00000680599.1:n.3694T>C
ENST00000680742.1:c.*179+7T>C	ENSP00000505206.1:n.*179+7T>C
ENST00000680791.1:n.2537T>C
ENST00000680885.1:n.5355T>C
ENST00000681158.1:c.3237T>C
ENST00000681203.1:c.3581T>C	ENSP00000506456.1:p.Phe1194Ser
ENST00000681371.1:n.3525T>C
ENST00000681425.1:n.4131T>C
ENST00000681639.1:n.1932T>C
ENST00000328194.7:c.3653T>C	ENSP00000328524.3:p.Phe1218Ser
ENST00000525784.5:c.589T>C
ENST00000527700.5:n.3215T>C
ENST00000528725.5:c.349T>C
ENST00000529977.5:n.1554T>C
ENST00000530044.5:c.3646+7T>C	ENSP00000435866.1:n.3646+7T>C
ENST00000531747.1:c.889T>C
ENST00000533737.5:c.316T>C
NM_001243254.1:c.3646+7T>C	NP_001230183.1:n.3646+7T>C
NM_015213.3:c.3653T>C	NP_056028.2:p.Phe1218Ser
XM_005252832.1:c.3653T>C	XP_005252889.1:p.Phe1218Ser
XM_011519952.1:c.3646+7T>C	XP_011518254.1:n.3646+7T>C
XM_011519953.1:c.1751T>C	XP_011518255.1:p.Phe584Ser
XR_242782.2:n.3835T>C
XR_930851.1:n.3828+7T>C
NM_001348749.1:c.3581T>C	NP_001335678.1:p.Phe1194Ser
NM_001348750.1:c.3365T>C	NP_001335679.1:p.Phe1122Ser
NR_145966.2:n.3827T>C
NM_015213.4:c.3653T>C MANE Select	NP_056028.2:p.Phe1218Ser
NM_001243254.2:c.3646+7T>C	NP_001230183.1:n.3646+7T>C
NM_001348749.2:c.3581T>C	NP_001335678.1:p.Phe1194Ser
NM_001348750.2:c.3365T>C	NP_001335679.1:p.Phe1122Ser