Canonical Allele Identifier: CA473254497

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9225487C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203940C>A , CM000673.2:g.9203940C>A	GRCh38
NC_000011.9:g.9225487C>A , CM000673.1:g.9225487C>A	GRCh37
NC_000011.8:g.9182063C>A	NCBI36
NG_053019.1:g.66396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.669G>T MANE Select	ENSP00000328524.3:p.Leu223=
ENST00000530780.2:c.*495G>T	ENSP00000433925.1:n.*495G>T
ENST00000530867.2:n.458G>T
ENST00000532696.2:n.592G>T
ENST00000679446.1:n.590G>T
ENST00000679460.1:n.458G>T
ENST00000679568.1:c.669G>T	ENSP00000505860.1:p.Leu223=
ENST00000679745.1:n.458G>T
ENST00000679999.1:c.669G>T	ENSP00000505198.1:p.Leu223=
ENST00000680252.1:c.458G>T
ENST00000680294.1:c.669G>T	ENSP00000506113.1:p.Leu223=
ENST00000680470.1:c.669G>T	ENSP00000505975.1:p.Leu223=
ENST00000680554.1:c.381G>T	ENSP00000505621.1:p.Leu127=
ENST00000680576.1:n.458G>T
ENST00000680599.1:n.586G>T
ENST00000680742.1:c.669G>T	ENSP00000505206.1:p.Leu223=
ENST00000680885.1:n.590G>T
ENST00000681158.1:c.458G>T
ENST00000681173.1:n.458G>T
ENST00000681203.1:c.597G>T	ENSP00000506456.1:p.Leu199=
ENST00000681425.1:n.590G>T
ENST00000681915.1:n.458G>T
ENST00000328194.7:c.669G>T	ENSP00000328524.3:p.Leu223=
ENST00000526707.5:c.597G>T	ENSP00000436780.1:p.Leu199=
ENST00000530044.5:c.669G>T	ENSP00000435866.1:p.Leu223=
ENST00000532696.1:n.424G>T
NM_001243254.1:c.669G>T	NP_001230183.1:p.Leu223=
NM_015213.3:c.669G>T	NP_056028.2:p.Leu223=
XM_005252832.1:c.669G>T	XP_005252889.1:p.Leu223=
XM_011519952.1:c.669G>T	XP_011518254.1:p.Leu223=
XR_242782.2:n.934G>T
XR_930851.1:n.934G>T
XR_930852.1:n.934G>T
XR_930853.1:n.934G>T
NM_001348749.1:c.597G>T	NP_001335678.1:p.Leu199=
NM_001348750.1:c.381G>T	NP_001335679.1:p.Leu127=
NR_145966.2:n.926G>T
NM_015213.4:c.669G>T MANE Select	NP_056028.2:p.Leu223=
NM_001243254.2:c.669G>T	NP_001230183.1:p.Leu223=
NM_001348749.2:c.597G>T	NP_001335678.1:p.Leu199=
NM_001348750.2:c.381G>T	NP_001335679.1:p.Leu127=