Canonical Allele Identifier: CA379597254

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141966-A-T
• MyVariant Identifiers: chr11:g.9163513A>T (hg19) ; chr11:g.9141966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141966A>T , CM000673.2:g.9141966A>T	GRCh38
NC_000011.9:g.9163513A>T , CM000673.1:g.9163513A>T	GRCh37
NC_000011.8:g.9120089A>T	NCBI36
NG_053019.1:g.128370T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3654T>A MANE Select	ENSP00000328524.3:p.Phe1218Leu
ENST00000525784.6:n.1516T>A
ENST00000530780.2:c.*3480T>A	ENSP00000433925.1:n.*3480T>A
ENST00000531747.2:n.3325T>A
ENST00000679446.1:n.3575T>A
ENST00000679458.1:n.5055T>A
ENST00000679460.1:n.4716T>A
ENST00000679568.1:c.3654T>A	ENSP00000505860.1:p.Phe1218Leu
ENST00000679745.1:n.4159T>A
ENST00000679773.1:n.2815T>A
ENST00000679926.1:n.4956T>A
ENST00000679999.1:c.*711T>A	ENSP00000505198.1:n.*711T>A
ENST00000680252.1:c.3321T>A
ENST00000680294.1:c.3447T>A	ENSP00000506113.1:p.Phe1149Leu
ENST00000680358.1:n.2953T>A
ENST00000680470.1:c.*1435T>A	ENSP00000505975.1:n.*1435T>A
ENST00000680554.1:c.*187T>A	ENSP00000505621.1:n.*187T>A
ENST00000680576.1:n.5130T>A
ENST00000680599.1:n.3695T>A
ENST00000680742.1:c.*179+8T>A	ENSP00000505206.1:n.*179+8T>A
ENST00000680791.1:n.2538T>A
ENST00000680885.1:n.5356T>A
ENST00000681158.1:c.3238T>A
ENST00000681203.1:c.3582T>A	ENSP00000506456.1:p.Phe1194Leu
ENST00000681371.1:n.3526T>A
ENST00000681425.1:n.4132T>A
ENST00000681639.1:n.1933T>A
ENST00000328194.7:c.3654T>A	ENSP00000328524.3:p.Phe1218Leu
ENST00000525784.5:c.590T>A
ENST00000527700.5:n.3216T>A
ENST00000528725.5:c.350T>A
ENST00000529977.5:n.1555T>A
ENST00000530044.5:c.3646+8T>A	ENSP00000435866.1:n.3646+8T>A
ENST00000531747.1:c.890T>A
ENST00000533737.5:c.317T>A
NM_001243254.1:c.3646+8T>A	NP_001230183.1:n.3646+8T>A
NM_015213.3:c.3654T>A	NP_056028.2:p.Phe1218Leu
XM_005252832.1:c.3654T>A	XP_005252889.1:p.Phe1218Leu
XM_011519952.1:c.3646+8T>A	XP_011518254.1:n.3646+8T>A
XM_011519953.1:c.1752T>A	XP_011518255.1:p.Phe584Leu
XR_242782.2:n.3836T>A
XR_930851.1:n.3828+8T>A
NM_001348749.1:c.3582T>A	NP_001335678.1:p.Phe1194Leu
NM_001348750.1:c.3366T>A	NP_001335679.1:p.Phe1122Leu
NR_145966.2:n.3828T>A
NM_015213.4:c.3654T>A MANE Select	NP_056028.2:p.Phe1218Leu
NM_001243254.2:c.3646+8T>A	NP_001230183.1:n.3646+8T>A
NM_001348749.2:c.3582T>A	NP_001335678.1:p.Phe1194Leu
NM_001348750.2:c.3366T>A	NP_001335679.1:p.Phe1122Leu