Canonical Allele Identifier: CA379597527

Gene: DENND5A

Linked Data

• dbSNP Id: rs2136110053
• MyVariant Identifiers: chr11:g.9163541G>A (hg19) ; chr11:g.9141994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141994G>A , CM000673.2:g.9141994G>A	GRCh38
NC_000011.9:g.9163541G>A , CM000673.1:g.9163541G>A	GRCh37
NC_000011.8:g.9120117G>A	NCBI36
NG_053019.1:g.128342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328194.8:c.3626C>T MANE Select	ENSP00000328524.3:p.Pro1209Leu
ENST00000525784.6:n.1488C>T
ENST00000530780.2:c.*3452C>T	ENSP00000433925.1:n.*3452C>T
ENST00000531747.2:n.3297C>T
ENST00000679446.1:n.3547C>T
ENST00000679458.1:n.5027C>T
ENST00000679460.1:n.4688C>T
ENST00000679568.1:c.3626C>T	ENSP00000505860.1:p.Pro1209Leu
ENST00000679745.1:n.4131C>T
ENST00000679773.1:n.2787C>T
ENST00000679926.1:n.4928C>T
ENST00000679999.1:c.*683C>T	ENSP00000505198.1:n.*683C>T
ENST00000680252.1:c.3293C>T
ENST00000680294.1:c.3419C>T	ENSP00000506113.1:p.Pro1140Leu
ENST00000680358.1:n.2925C>T
ENST00000680470.1:c.*1407C>T	ENSP00000505975.1:n.*1407C>T
ENST00000680554.1:c.*159C>T	ENSP00000505621.1:n.*159C>T
ENST00000680576.1:n.5102C>T
ENST00000680599.1:n.3667C>T
ENST00000680742.1:c.*159C>T	ENSP00000505206.1:n.*159C>T
ENST00000680791.1:n.2510C>T
ENST00000680885.1:n.5328C>T
ENST00000681158.1:c.3210C>T
ENST00000681203.1:c.3554C>T	ENSP00000506456.1:p.Pro1185Leu
ENST00000681371.1:n.3498C>T
ENST00000681425.1:n.4104C>T
ENST00000681639.1:n.1905C>T
ENST00000328194.7:c.3626C>T	ENSP00000328524.3:p.Pro1209Leu
ENST00000525784.5:c.562C>T
ENST00000527700.5:n.3188C>T
ENST00000528725.5:c.322C>T
ENST00000529977.5:n.1527C>T
ENST00000530044.5:c.3626C>T	ENSP00000435866.1:p.Pro1209Leu
ENST00000531747.1:c.862C>T
ENST00000533737.5:c.289C>T
NM_001243254.1:c.3626C>T	NP_001230183.1:p.Pro1209Leu
NM_015213.3:c.3626C>T	NP_056028.2:p.Pro1209Leu
XM_005252832.1:c.3626C>T	XP_005252889.1:p.Pro1209Leu
XM_011519952.1:c.3626C>T	XP_011518254.1:p.Pro1209Leu
XM_011519953.1:c.1724C>T	XP_011518255.1:p.Pro575Leu
XR_242782.2:n.3808C>T
XR_930851.1:n.3808C>T
NM_001348749.1:c.3554C>T	NP_001335678.1:p.Pro1185Leu
NM_001348750.1:c.3338C>T	NP_001335679.1:p.Pro1113Leu
NR_145966.2:n.3800C>T
NM_015213.4:c.3626C>T MANE Select	NP_056028.2:p.Pro1209Leu
NM_001243254.2:c.3626C>T	NP_001230183.1:p.Pro1209Leu
NM_001348749.2:c.3554C>T	NP_001335678.1:p.Pro1185Leu
NM_001348750.2:c.3338C>T	NP_001335679.1:p.Pro1113Leu