Canonical Allele Identifier: CA379597832

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9142040-T-C
• MyVariant Identifiers: chr11:g.9163587T>C (hg19) ; chr11:g.9142040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142040T>C , CM000673.2:g.9142040T>C	GRCh38
NC_000011.9:g.9163587T>C , CM000673.1:g.9163587T>C	GRCh37
NC_000011.8:g.9120163T>C	NCBI36
NG_053019.1:g.128296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3580A>G MANE Select	ENSP00000328524.3:p.Arg1194Gly
ENST00000525784.6:n.1442A>G
ENST00000530780.2:c.*3406A>G	ENSP00000433925.1:n.*3406A>G
ENST00000531747.2:n.3251A>G
ENST00000679446.1:n.3501A>G
ENST00000679458.1:n.4981A>G
ENST00000679460.1:n.4642A>G
ENST00000679568.1:c.3580A>G	ENSP00000505860.1:p.Arg1194Gly
ENST00000679745.1:n.4085A>G
ENST00000679773.1:n.2741A>G
ENST00000679926.1:n.4882A>G
ENST00000679999.1:c.*637A>G	ENSP00000505198.1:n.*637A>G
ENST00000680252.1:c.3247A>G
ENST00000680294.1:c.3373A>G	ENSP00000506113.1:p.Arg1125Gly
ENST00000680358.1:n.2879A>G
ENST00000680470.1:c.*1361A>G	ENSP00000505975.1:n.*1361A>G
ENST00000680554.1:c.*113A>G	ENSP00000505621.1:n.*113A>G
ENST00000680576.1:n.5056A>G
ENST00000680599.1:n.3621A>G
ENST00000680742.1:c.*113A>G	ENSP00000505206.1:n.*113A>G
ENST00000680791.1:n.2464A>G
ENST00000680885.1:n.5282A>G
ENST00000681158.1:c.3164A>G
ENST00000681203.1:c.3508A>G	ENSP00000506456.1:p.Arg1170Gly
ENST00000681371.1:n.3452A>G
ENST00000681425.1:n.4058A>G
ENST00000681639.1:n.1859A>G
ENST00000328194.7:c.3580A>G	ENSP00000328524.3:p.Arg1194Gly
ENST00000525784.5:c.516A>G
ENST00000527700.5:n.3142A>G
ENST00000528725.5:c.276A>G
ENST00000529977.5:n.1481A>G
ENST00000530044.5:c.3580A>G	ENSP00000435866.1:p.Arg1194Gly
ENST00000531747.1:c.816A>G
ENST00000533737.5:c.243A>G
NM_001243254.1:c.3580A>G	NP_001230183.1:p.Arg1194Gly
NM_015213.3:c.3580A>G	NP_056028.2:p.Arg1194Gly
XM_005252832.1:c.3580A>G	XP_005252889.1:p.Arg1194Gly
XM_011519952.1:c.3580A>G	XP_011518254.1:p.Arg1194Gly
XM_011519953.1:c.1678A>G	XP_011518255.1:p.Arg560Gly
XR_242782.2:n.3762A>G
XR_930851.1:n.3762A>G
NM_001348749.1:c.3508A>G	NP_001335678.1:p.Arg1170Gly
NM_001348750.1:c.3292A>G	NP_001335679.1:p.Arg1098Gly
NR_145966.2:n.3754A>G
NM_015213.4:c.3580A>G MANE Select	NP_056028.2:p.Arg1194Gly
NM_001243254.2:c.3580A>G	NP_001230183.1:p.Arg1194Gly
NM_001348749.2:c.3508A>G	NP_001335678.1:p.Arg1170Gly
NM_001348750.2:c.3292A>G	NP_001335679.1:p.Arg1098Gly