Canonical Allele Identifier: CA379598207

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142094-A-G
• COSMIC: COSM2223092
• MyVariant Identifiers: chr11:g.9163641A>G (hg19) ; chr11:g.9142094A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142094A>G , CM000673.2:g.9142094A>G	GRCh38
NC_000011.9:g.9163641A>G , CM000673.1:g.9163641A>G	GRCh37
NC_000011.8:g.9120217A>G	NCBI36
NG_053019.1:g.128242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3526T>C MANE Select	ENSP00000328524.3:p.Tyr1176His
ENST00000525784.6:n.1388T>C
ENST00000530780.2:c.*3352T>C	ENSP00000433925.1:n.*3352T>C
ENST00000531747.2:n.3197T>C
ENST00000679446.1:n.3447T>C
ENST00000679458.1:n.4927T>C
ENST00000679460.1:n.4588T>C
ENST00000679568.1:c.3526T>C	ENSP00000505860.1:p.Tyr1176His
ENST00000679745.1:n.4031T>C
ENST00000679773.1:n.2687T>C
ENST00000679926.1:n.4828T>C
ENST00000679999.1:c.*583T>C	ENSP00000505198.1:n.*583T>C
ENST00000680252.1:c.3193T>C
ENST00000680294.1:c.3319T>C	ENSP00000506113.1:p.Tyr1107His
ENST00000680358.1:n.2825T>C
ENST00000680470.1:c.*1307T>C	ENSP00000505975.1:n.*1307T>C
ENST00000680554.1:c.*59T>C	ENSP00000505621.1:n.*59T>C
ENST00000680576.1:n.5002T>C
ENST00000680599.1:n.3567T>C
ENST00000680742.1:c.*59T>C	ENSP00000505206.1:n.*59T>C
ENST00000680791.1:n.2410T>C
ENST00000680885.1:n.5228T>C
ENST00000681158.1:c.3110T>C
ENST00000681203.1:c.3454T>C	ENSP00000506456.1:p.Tyr1152His
ENST00000681371.1:n.3398T>C
ENST00000681425.1:n.4004T>C
ENST00000681639.1:n.1805T>C
ENST00000328194.7:c.3526T>C	ENSP00000328524.3:p.Tyr1176His
ENST00000525784.5:c.462T>C
ENST00000527700.5:n.3088T>C
ENST00000528725.5:c.222T>C
ENST00000529977.5:n.1427T>C
ENST00000530044.5:c.3526T>C	ENSP00000435866.1:p.Tyr1176His
ENST00000531747.1:c.762T>C
ENST00000533737.5:c.189T>C
NM_001243254.1:c.3526T>C	NP_001230183.1:p.Tyr1176His
NM_015213.3:c.3526T>C	NP_056028.2:p.Tyr1176His
XM_005252832.1:c.3526T>C	XP_005252889.1:p.Tyr1176His
XM_011519952.1:c.3526T>C	XP_011518254.1:p.Tyr1176His
XM_011519953.1:c.1624T>C	XP_011518255.1:p.Tyr542His
XR_242782.2:n.3708T>C
XR_930851.1:n.3708T>C
NM_001348749.1:c.3454T>C	NP_001335678.1:p.Tyr1152His
NM_001348750.1:c.3238T>C	NP_001335679.1:p.Tyr1080His
NR_145966.2:n.3700T>C
NM_015213.4:c.3526T>C MANE Select	NP_056028.2:p.Tyr1176His
NM_001243254.2:c.3526T>C	NP_001230183.1:p.Tyr1176His
NM_001348749.2:c.3454T>C	NP_001335678.1:p.Tyr1152His
NM_001348750.2:c.3238T>C	NP_001335679.1:p.Tyr1080His