Canonical Allele Identifier: CA379597151

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141952-C-A
• MyVariant Identifiers: chr11:g.9163499C>A (hg19) ; chr11:g.9141952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141952C>A , CM000673.2:g.9141952C>A	GRCh38
NC_000011.9:g.9163499C>A , CM000673.1:g.9163499C>A	GRCh37
NC_000011.8:g.9120075C>A	NCBI36
NG_053019.1:g.128384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3668G>T MANE Select	ENSP00000328524.3:p.Cys1223Phe
ENST00000525784.6:n.1530G>T
ENST00000530780.2:c.*3494G>T	ENSP00000433925.1:n.*3494G>T
ENST00000531747.2:n.3339G>T
ENST00000679446.1:n.3589G>T
ENST00000679458.1:n.5069G>T
ENST00000679460.1:n.4730G>T
ENST00000679568.1:c.3668G>T	ENSP00000505860.1:p.Cys1223Phe
ENST00000679745.1:n.4173G>T
ENST00000679773.1:n.2829G>T
ENST00000679926.1:n.4970G>T
ENST00000679999.1:c.*725G>T	ENSP00000505198.1:n.*725G>T
ENST00000680252.1:c.3335G>T
ENST00000680294.1:c.3461G>T	ENSP00000506113.1:p.Cys1154Phe
ENST00000680358.1:n.2967G>T
ENST00000680470.1:c.*1449G>T	ENSP00000505975.1:n.*1449G>T
ENST00000680554.1:c.*201G>T	ENSP00000505621.1:n.*201G>T
ENST00000680576.1:n.5144G>T
ENST00000680599.1:n.3709G>T
ENST00000680742.1:c.*179+22G>T	ENSP00000505206.1:n.*179+22G>T
ENST00000680791.1:n.2552G>T
ENST00000680885.1:n.5370G>T
ENST00000681158.1:c.3252G>T
ENST00000681203.1:c.3596G>T	ENSP00000506456.1:p.Cys1199Phe
ENST00000681371.1:n.3540G>T
ENST00000681425.1:n.4146G>T
ENST00000681639.1:n.1947G>T
ENST00000328194.7:c.3668G>T	ENSP00000328524.3:p.Cys1223Phe
ENST00000525784.5:c.604G>T
ENST00000527700.5:n.3230G>T
ENST00000528725.5:c.364G>T
ENST00000529977.5:n.1569G>T
ENST00000530044.5:c.3646+22G>T	ENSP00000435866.1:n.3646+22G>T
ENST00000531747.1:c.904G>T
ENST00000533737.5:c.331G>T
NM_001243254.1:c.3646+22G>T	NP_001230183.1:n.3646+22G>T
NM_015213.3:c.3668G>T	NP_056028.2:p.Cys1223Phe
XM_005252832.1:c.3668G>T	XP_005252889.1:p.Cys1223Phe
XM_011519952.1:c.3646+22G>T	XP_011518254.1:n.3646+22G>T
XM_011519953.1:c.1766G>T	XP_011518255.1:p.Cys589Phe
XR_242782.2:n.3850G>T
XR_930851.1:n.3828+22G>T
NM_001348749.1:c.3596G>T	NP_001335678.1:p.Cys1199Phe
NM_001348750.1:c.3380G>T	NP_001335679.1:p.Cys1127Phe
NR_145966.2:n.3842G>T
NM_015213.4:c.3668G>T MANE Select	NP_056028.2:p.Cys1223Phe
NM_001243254.2:c.3646+22G>T	NP_001230183.1:n.3646+22G>T
NM_001348749.2:c.3596G>T	NP_001335678.1:p.Cys1199Phe
NM_001348750.2:c.3380G>T	NP_001335679.1:p.Cys1127Phe