Canonical Allele Identifier: CA473040275

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142101-T-C
• MyVariant Identifiers: chr11:g.9163648T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142101T>C , CM000673.2:g.9142101T>C	GRCh38
NC_000011.9:g.9163648T>C , CM000673.1:g.9163648T>C	GRCh37
NC_000011.8:g.9120224T>C	NCBI36
NG_053019.1:g.128235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3519A>G MANE Select	ENSP00000328524.3:p.Ala1173=
ENST00000525784.6:n.1381A>G
ENST00000530780.2:c.*3345A>G	ENSP00000433925.1:n.*3345A>G
ENST00000531747.2:n.3190A>G
ENST00000679446.1:n.3440A>G
ENST00000679458.1:n.4920A>G
ENST00000679460.1:n.4581A>G
ENST00000679568.1:c.3519A>G	ENSP00000505860.1:p.Ala1173=
ENST00000679745.1:n.4024A>G
ENST00000679773.1:n.2680A>G
ENST00000679926.1:n.4821A>G
ENST00000679999.1:c.*576A>G	ENSP00000505198.1:n.*576A>G
ENST00000680252.1:c.3186A>G
ENST00000680294.1:c.3312A>G	ENSP00000506113.1:p.Ala1104=
ENST00000680358.1:n.2818A>G
ENST00000680470.1:c.*1300A>G	ENSP00000505975.1:n.*1300A>G
ENST00000680554.1:c.*52A>G	ENSP00000505621.1:n.*52A>G
ENST00000680576.1:n.4995A>G
ENST00000680599.1:n.3560A>G
ENST00000680742.1:c.*52A>G	ENSP00000505206.1:n.*52A>G
ENST00000680791.1:n.2403A>G
ENST00000680885.1:n.5221A>G
ENST00000681158.1:c.3103A>G
ENST00000681203.1:c.3447A>G	ENSP00000506456.1:p.Ala1149=
ENST00000681371.1:n.3391A>G
ENST00000681425.1:n.3997A>G
ENST00000681639.1:n.1798A>G
ENST00000328194.7:c.3519A>G	ENSP00000328524.3:p.Ala1173=
ENST00000525784.5:c.455A>G
ENST00000527700.5:n.3081A>G
ENST00000528725.5:c.215A>G
ENST00000529977.5:n.1420A>G
ENST00000530044.5:c.3519A>G	ENSP00000435866.1:p.Ala1173=
ENST00000531747.1:c.755A>G
ENST00000533737.5:c.182A>G
NM_001243254.1:c.3519A>G	NP_001230183.1:p.Ala1173=
NM_015213.3:c.3519A>G	NP_056028.2:p.Ala1173=
XM_005252832.1:c.3519A>G	XP_005252889.1:p.Ala1173=
XM_011519952.1:c.3519A>G	XP_011518254.1:p.Ala1173=
XM_011519953.1:c.1617A>G	XP_011518255.1:p.Ala539=
XR_242782.2:n.3701A>G
XR_930851.1:n.3701A>G
NM_001348749.1:c.3447A>G	NP_001335678.1:p.Ala1149=
NM_001348750.1:c.3231A>G	NP_001335679.1:p.Ala1077=
NR_145966.2:n.3693A>G
NM_015213.4:c.3519A>G MANE Select	NP_056028.2:p.Ala1173=
NM_001243254.2:c.3519A>G	NP_001230183.1:p.Ala1173=
NM_001348749.2:c.3447A>G	NP_001335678.1:p.Ala1149=
NM_001348750.2:c.3231A>G	NP_001335679.1:p.Ala1077=