Canonical Allele Identifier: CA379600092

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9225732T>A (hg19) ; chr11:g.9204185T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204185T>A , CM000673.2:g.9204185T>A	GRCh38
NC_000011.9:g.9225732T>A , CM000673.1:g.9225732T>A	GRCh37
NC_000011.8:g.9182308T>A	NCBI36
NG_053019.1:g.66151A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.424A>T MANE Select	ENSP00000328524.3:p.Thr142Ser
ENST00000530780.2:c.*250A>T	ENSP00000433925.1:n.*250A>T
ENST00000530867.2:n.213A>T
ENST00000532696.2:n.347A>T
ENST00000679446.1:n.345A>T
ENST00000679460.1:n.213A>T
ENST00000679568.1:c.424A>T	ENSP00000505860.1:p.Thr142Ser
ENST00000679745.1:n.213A>T
ENST00000679999.1:c.424A>T	ENSP00000505198.1:p.Thr142Ser
ENST00000680252.1:c.213A>T
ENST00000680294.1:c.424A>T	ENSP00000506113.1:p.Thr142Ser
ENST00000680470.1:c.424A>T	ENSP00000505975.1:p.Thr142Ser
ENST00000680554.1:c.136A>T	ENSP00000505621.1:p.Thr46Ser
ENST00000680576.1:n.213A>T
ENST00000680599.1:n.341A>T
ENST00000680742.1:c.424A>T	ENSP00000505206.1:p.Thr142Ser
ENST00000680885.1:n.345A>T
ENST00000681158.1:c.213A>T
ENST00000681173.1:n.213A>T
ENST00000681203.1:c.352A>T	ENSP00000506456.1:p.Thr118Ser
ENST00000681425.1:n.345A>T
ENST00000681915.1:n.213A>T
ENST00000328194.7:c.424A>T	ENSP00000328524.3:p.Thr142Ser
ENST00000526707.5:c.352A>T	ENSP00000436780.1:p.Thr118Ser
ENST00000530044.5:c.424A>T	ENSP00000435866.1:p.Thr142Ser
ENST00000530780.1:c.*250A>T	ENSP00000433925.1:n.*250A>T
ENST00000532696.1:n.179A>T
NM_001243254.1:c.424A>T	NP_001230183.1:p.Thr142Ser
NM_015213.3:c.424A>T	NP_056028.2:p.Thr142Ser
XM_005252832.1:c.424A>T	XP_005252889.1:p.Thr142Ser
XM_011519952.1:c.424A>T	XP_011518254.1:p.Thr142Ser
XR_242782.2:n.689A>T
XR_930851.1:n.689A>T
XR_930852.1:n.689A>T
XR_930853.1:n.689A>T
NM_001348749.1:c.352A>T	NP_001335678.1:p.Thr118Ser
NM_001348750.1:c.136A>T	NP_001335679.1:p.Thr46Ser
NR_145966.2:n.681A>T
NM_015213.4:c.424A>T MANE Select	NP_056028.2:p.Thr142Ser
NM_001243254.2:c.424A>T	NP_001230183.1:p.Thr142Ser
NM_001348749.2:c.352A>T	NP_001335678.1:p.Thr118Ser
NM_001348750.2:c.136A>T	NP_001335679.1:p.Thr46Ser