Canonical Allele Identifier: CA379597843

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142043-T-G
• MyVariant Identifiers: chr11:g.9163590T>G (hg19) ; chr11:g.9142043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142043T>G , CM000673.2:g.9142043T>G	GRCh38
NC_000011.9:g.9163590T>G , CM000673.1:g.9163590T>G	GRCh37
NC_000011.8:g.9120166T>G	NCBI36
NG_053019.1:g.128293A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3577A>C MANE Select	ENSP00000328524.3:p.Thr1193Pro
ENST00000525784.6:n.1439A>C
ENST00000530780.2:c.*3403A>C	ENSP00000433925.1:n.*3403A>C
ENST00000531747.2:n.3248A>C
ENST00000679446.1:n.3498A>C
ENST00000679458.1:n.4978A>C
ENST00000679460.1:n.4639A>C
ENST00000679568.1:c.3577A>C	ENSP00000505860.1:p.Thr1193Pro
ENST00000679745.1:n.4082A>C
ENST00000679773.1:n.2738A>C
ENST00000679926.1:n.4879A>C
ENST00000679999.1:c.*634A>C	ENSP00000505198.1:n.*634A>C
ENST00000680252.1:c.3244A>C
ENST00000680294.1:c.3370A>C	ENSP00000506113.1:p.Thr1124Pro
ENST00000680358.1:n.2876A>C
ENST00000680470.1:c.*1358A>C	ENSP00000505975.1:n.*1358A>C
ENST00000680554.1:c.*110A>C	ENSP00000505621.1:n.*110A>C
ENST00000680576.1:n.5053A>C
ENST00000680599.1:n.3618A>C
ENST00000680742.1:c.*110A>C	ENSP00000505206.1:n.*110A>C
ENST00000680791.1:n.2461A>C
ENST00000680885.1:n.5279A>C
ENST00000681158.1:c.3161A>C
ENST00000681203.1:c.3505A>C	ENSP00000506456.1:p.Thr1169Pro
ENST00000681371.1:n.3449A>C
ENST00000681425.1:n.4055A>C
ENST00000681639.1:n.1856A>C
ENST00000328194.7:c.3577A>C	ENSP00000328524.3:p.Thr1193Pro
ENST00000525784.5:c.513A>C
ENST00000527700.5:n.3139A>C
ENST00000528725.5:c.273A>C
ENST00000529977.5:n.1478A>C
ENST00000530044.5:c.3577A>C	ENSP00000435866.1:p.Thr1193Pro
ENST00000531747.1:c.813A>C
ENST00000533737.5:c.240A>C
NM_001243254.1:c.3577A>C	NP_001230183.1:p.Thr1193Pro
NM_015213.3:c.3577A>C	NP_056028.2:p.Thr1193Pro
XM_005252832.1:c.3577A>C	XP_005252889.1:p.Thr1193Pro
XM_011519952.1:c.3577A>C	XP_011518254.1:p.Thr1193Pro
XM_011519953.1:c.1675A>C	XP_011518255.1:p.Thr559Pro
XR_242782.2:n.3759A>C
XR_930851.1:n.3759A>C
NM_001348749.1:c.3505A>C	NP_001335678.1:p.Thr1169Pro
NM_001348750.1:c.3289A>C	NP_001335679.1:p.Thr1097Pro
NR_145966.2:n.3751A>C
NM_015213.4:c.3577A>C MANE Select	NP_056028.2:p.Thr1193Pro
NM_001243254.2:c.3577A>C	NP_001230183.1:p.Thr1193Pro
NM_001348749.2:c.3505A>C	NP_001335678.1:p.Thr1169Pro
NM_001348750.2:c.3289A>C	NP_001335679.1:p.Thr1097Pro