Canonical Allele Identifier: CA379597135

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163496A>G (hg19) ; chr11:g.9141949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141949A>G , CM000673.2:g.9141949A>G	GRCh38
NC_000011.9:g.9163496A>G , CM000673.1:g.9163496A>G	GRCh37
NC_000011.8:g.9120072A>G	NCBI36
NG_053019.1:g.128387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3671T>C MANE Select	ENSP00000328524.3:p.Leu1224Ser
ENST00000525784.6:n.1533T>C
ENST00000530780.2:c.*3497T>C	ENSP00000433925.1:n.*3497T>C
ENST00000531747.2:n.3342T>C
ENST00000679446.1:n.3592T>C
ENST00000679458.1:n.5072T>C
ENST00000679460.1:n.4733T>C
ENST00000679568.1:c.3671T>C	ENSP00000505860.1:p.Leu1224Ser
ENST00000679745.1:n.4176T>C
ENST00000679773.1:n.2832T>C
ENST00000679926.1:n.4973T>C
ENST00000679999.1:c.*728T>C	ENSP00000505198.1:n.*728T>C
ENST00000680252.1:c.3338T>C
ENST00000680294.1:c.3464T>C	ENSP00000506113.1:p.Leu1155Ser
ENST00000680358.1:n.2970T>C
ENST00000680470.1:c.*1452T>C	ENSP00000505975.1:n.*1452T>C
ENST00000680554.1:c.*204T>C	ENSP00000505621.1:n.*204T>C
ENST00000680576.1:n.5147T>C
ENST00000680599.1:n.3712T>C
ENST00000680742.1:c.*179+25T>C	ENSP00000505206.1:n.*179+25T>C
ENST00000680791.1:n.2555T>C
ENST00000680885.1:n.5373T>C
ENST00000681158.1:c.3255T>C
ENST00000681203.1:c.3599T>C	ENSP00000506456.1:p.Leu1200Ser
ENST00000681371.1:n.3543T>C
ENST00000681425.1:n.4149T>C
ENST00000681639.1:n.1950T>C
ENST00000328194.7:c.3671T>C	ENSP00000328524.3:p.Leu1224Ser
ENST00000525784.5:c.607T>C
ENST00000527700.5:n.3233T>C
ENST00000528725.5:c.367T>C
ENST00000529977.5:n.1572T>C
ENST00000530044.5:c.3646+25T>C	ENSP00000435866.1:n.3646+25T>C
ENST00000531747.1:c.907T>C
ENST00000533737.5:c.334T>C
NM_001243254.1:c.3646+25T>C	NP_001230183.1:n.3646+25T>C
NM_015213.3:c.3671T>C	NP_056028.2:p.Leu1224Ser
XM_005252832.1:c.3671T>C	XP_005252889.1:p.Leu1224Ser
XM_011519952.1:c.3646+25T>C	XP_011518254.1:n.3646+25T>C
XM_011519953.1:c.1769T>C	XP_011518255.1:p.Leu590Ser
XR_242782.2:n.3853T>C
XR_930851.1:n.3828+25T>C
NM_001348749.1:c.3599T>C	NP_001335678.1:p.Leu1200Ser
NM_001348750.1:c.3383T>C	NP_001335679.1:p.Leu1128Ser
NR_145966.2:n.3845T>C
NM_015213.4:c.3671T>C MANE Select	NP_056028.2:p.Leu1224Ser
NM_001243254.2:c.3646+25T>C	NP_001230183.1:n.3646+25T>C
NM_001348749.2:c.3599T>C	NP_001335678.1:p.Leu1200Ser
NM_001348750.2:c.3383T>C	NP_001335679.1:p.Leu1128Ser