Canonical Allele Identifier: CA379597823

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142039-C-G
• MyVariant Identifiers: chr11:g.9163586C>G (hg19) ; chr11:g.9142039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142039C>G , CM000673.2:g.9142039C>G	GRCh38
NC_000011.9:g.9163586C>G , CM000673.1:g.9163586C>G	GRCh37
NC_000011.8:g.9120162C>G	NCBI36
NG_053019.1:g.128297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3581G>C MANE Select	ENSP00000328524.3:p.Arg1194Thr
ENST00000525784.6:n.1443G>C
ENST00000530780.2:c.*3407G>C	ENSP00000433925.1:n.*3407G>C
ENST00000531747.2:n.3252G>C
ENST00000679446.1:n.3502G>C
ENST00000679458.1:n.4982G>C
ENST00000679460.1:n.4643G>C
ENST00000679568.1:c.3581G>C	ENSP00000505860.1:p.Arg1194Thr
ENST00000679745.1:n.4086G>C
ENST00000679773.1:n.2742G>C
ENST00000679926.1:n.4883G>C
ENST00000679999.1:c.*638G>C	ENSP00000505198.1:n.*638G>C
ENST00000680252.1:c.3248G>C
ENST00000680294.1:c.3374G>C	ENSP00000506113.1:p.Arg1125Thr
ENST00000680358.1:n.2880G>C
ENST00000680470.1:c.*1362G>C	ENSP00000505975.1:n.*1362G>C
ENST00000680554.1:c.*114G>C	ENSP00000505621.1:n.*114G>C
ENST00000680576.1:n.5057G>C
ENST00000680599.1:n.3622G>C
ENST00000680742.1:c.*114G>C	ENSP00000505206.1:n.*114G>C
ENST00000680791.1:n.2465G>C
ENST00000680885.1:n.5283G>C
ENST00000681158.1:c.3165G>C
ENST00000681203.1:c.3509G>C	ENSP00000506456.1:p.Arg1170Thr
ENST00000681371.1:n.3453G>C
ENST00000681425.1:n.4059G>C
ENST00000681639.1:n.1860G>C
ENST00000328194.7:c.3581G>C	ENSP00000328524.3:p.Arg1194Thr
ENST00000525784.5:c.517G>C
ENST00000527700.5:n.3143G>C
ENST00000528725.5:c.277G>C
ENST00000529977.5:n.1482G>C
ENST00000530044.5:c.3581G>C	ENSP00000435866.1:p.Arg1194Thr
ENST00000531747.1:c.817G>C
ENST00000533737.5:c.244G>C
NM_001243254.1:c.3581G>C	NP_001230183.1:p.Arg1194Thr
NM_015213.3:c.3581G>C	NP_056028.2:p.Arg1194Thr
XM_005252832.1:c.3581G>C	XP_005252889.1:p.Arg1194Thr
XM_011519952.1:c.3581G>C	XP_011518254.1:p.Arg1194Thr
XM_011519953.1:c.1679G>C	XP_011518255.1:p.Arg560Thr
XR_242782.2:n.3763G>C
XR_930851.1:n.3763G>C
NM_001348749.1:c.3509G>C	NP_001335678.1:p.Arg1170Thr
NM_001348750.1:c.3293G>C	NP_001335679.1:p.Arg1098Thr
NR_145966.2:n.3755G>C
NM_015213.4:c.3581G>C MANE Select	NP_056028.2:p.Arg1194Thr
NM_001243254.2:c.3581G>C	NP_001230183.1:p.Arg1194Thr
NM_001348749.2:c.3509G>C	NP_001335678.1:p.Arg1170Thr
NM_001348750.2:c.3293G>C	NP_001335679.1:p.Arg1098Thr