Canonical Allele Identifier: CA379598104

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142076-T-C
• MyVariant Identifiers: chr11:g.9163623T>C (hg19) ; chr11:g.9142076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142076T>C , CM000673.2:g.9142076T>C	GRCh38
NC_000011.9:g.9163623T>C , CM000673.1:g.9163623T>C	GRCh37
NC_000011.8:g.9120199T>C	NCBI36
NG_053019.1:g.128260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3544A>G MANE Select	ENSP00000328524.3:p.Lys1182Glu
ENST00000525784.6:n.1406A>G
ENST00000530780.2:c.*3370A>G	ENSP00000433925.1:n.*3370A>G
ENST00000531747.2:n.3215A>G
ENST00000679446.1:n.3465A>G
ENST00000679458.1:n.4945A>G
ENST00000679460.1:n.4606A>G
ENST00000679568.1:c.3544A>G	ENSP00000505860.1:p.Lys1182Glu
ENST00000679745.1:n.4049A>G
ENST00000679773.1:n.2705A>G
ENST00000679926.1:n.4846A>G
ENST00000679999.1:c.*601A>G	ENSP00000505198.1:n.*601A>G
ENST00000680252.1:c.3211A>G
ENST00000680294.1:c.3337A>G	ENSP00000506113.1:p.Lys1113Glu
ENST00000680358.1:n.2843A>G
ENST00000680470.1:c.*1325A>G	ENSP00000505975.1:n.*1325A>G
ENST00000680554.1:c.*77A>G	ENSP00000505621.1:n.*77A>G
ENST00000680576.1:n.5020A>G
ENST00000680599.1:n.3585A>G
ENST00000680742.1:c.*77A>G	ENSP00000505206.1:n.*77A>G
ENST00000680791.1:n.2428A>G
ENST00000680885.1:n.5246A>G
ENST00000681158.1:c.3128A>G
ENST00000681203.1:c.3472A>G	ENSP00000506456.1:p.Lys1158Glu
ENST00000681371.1:n.3416A>G
ENST00000681425.1:n.4022A>G
ENST00000681639.1:n.1823A>G
ENST00000328194.7:c.3544A>G	ENSP00000328524.3:p.Lys1182Glu
ENST00000525784.5:c.480A>G
ENST00000527700.5:n.3106A>G
ENST00000528725.5:c.240A>G
ENST00000529977.5:n.1445A>G
ENST00000530044.5:c.3544A>G	ENSP00000435866.1:p.Lys1182Glu
ENST00000531747.1:c.780A>G
ENST00000533737.5:c.207A>G
NM_001243254.1:c.3544A>G	NP_001230183.1:p.Lys1182Glu
NM_015213.3:c.3544A>G	NP_056028.2:p.Lys1182Glu
XM_005252832.1:c.3544A>G	XP_005252889.1:p.Lys1182Glu
XM_011519952.1:c.3544A>G	XP_011518254.1:p.Lys1182Glu
XM_011519953.1:c.1642A>G	XP_011518255.1:p.Lys548Glu
XR_242782.2:n.3726A>G
XR_930851.1:n.3726A>G
NM_001348749.1:c.3472A>G	NP_001335678.1:p.Lys1158Glu
NM_001348750.1:c.3256A>G	NP_001335679.1:p.Lys1086Glu
NR_145966.2:n.3718A>G
NM_015213.4:c.3544A>G MANE Select	NP_056028.2:p.Lys1182Glu
NM_001243254.2:c.3544A>G	NP_001230183.1:p.Lys1182Glu
NM_001348749.2:c.3472A>G	NP_001335678.1:p.Lys1158Glu
NM_001348750.2:c.3256A>G	NP_001335679.1:p.Lys1086Glu