Canonical Allele Identifier: CA379600553

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2020046
• ClinVar RCV Id: RCV002852275
• dbSNP Id: rs1475604621
• gnomAD v2: 11-9225852-T-C
• gnomAD v4: 11-9204305-T-C
• MyVariant Identifiers: chr11:g.9225852T>C (hg19) ; chr11:g.9204305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204305T>C , CM000673.2:g.9204305T>C	GRCh38
NC_000011.9:g.9225852T>C , CM000673.1:g.9225852T>C	GRCh37
NC_000011.8:g.9182428T>C	NCBI36
NG_053019.1:g.66031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.304A>G MANE Select	ENSP00000328524.3:p.Lys102Glu
ENST00000530780.2:c.*130A>G	ENSP00000433925.1:n.*130A>G
ENST00000530867.2:n.93A>G
ENST00000532696.2:n.227A>G
ENST00000679446.1:n.225A>G
ENST00000679460.1:n.93A>G
ENST00000679568.1:c.304A>G	ENSP00000505860.1:p.Lys102Glu
ENST00000679745.1:n.93A>G
ENST00000679999.1:c.304A>G	ENSP00000505198.1:p.Lys102Glu
ENST00000680252.1:c.93A>G
ENST00000680294.1:c.304A>G	ENSP00000506113.1:p.Lys102Glu
ENST00000680470.1:c.304A>G	ENSP00000505975.1:p.Lys102Glu
ENST00000680554.1:c.16A>G	ENSP00000505621.1:p.Lys6Glu
ENST00000680576.1:n.93A>G
ENST00000680599.1:n.221A>G
ENST00000680742.1:c.304A>G	ENSP00000505206.1:p.Lys102Glu
ENST00000680885.1:n.225A>G
ENST00000681158.1:c.93A>G
ENST00000681173.1:n.93A>G
ENST00000681203.1:c.232A>G	ENSP00000506456.1:p.Lys78Glu
ENST00000681425.1:n.225A>G
ENST00000681915.1:n.93A>G
ENST00000328194.7:c.304A>G	ENSP00000328524.3:p.Lys102Glu
ENST00000526707.5:c.232A>G	ENSP00000436780.1:p.Lys78Glu
ENST00000530044.5:c.304A>G	ENSP00000435866.1:p.Lys102Glu
ENST00000530780.1:c.*130A>G	ENSP00000433925.1:n.*130A>G
ENST00000532696.1:n.59A>G
NM_001243254.1:c.304A>G	NP_001230183.1:p.Lys102Glu
NM_015213.3:c.304A>G	NP_056028.2:p.Lys102Glu
XM_005252832.1:c.304A>G	XP_005252889.1:p.Lys102Glu
XM_011519952.1:c.304A>G	XP_011518254.1:p.Lys102Glu
XR_242782.2:n.569A>G
XR_930851.1:n.569A>G
XR_930852.1:n.569A>G
XR_930853.1:n.569A>G
NM_001348749.1:c.232A>G	NP_001335678.1:p.Lys78Glu
NM_001348750.1:c.16A>G	NP_001335679.1:p.Lys6Glu
NR_145966.2:n.561A>G
NM_015213.4:c.304A>G MANE Select	NP_056028.2:p.Lys102Glu
NM_001243254.2:c.304A>G	NP_001230183.1:p.Lys102Glu
NM_001348749.2:c.232A>G	NP_001335678.1:p.Lys78Glu
NM_001348750.2:c.16A>G	NP_001335679.1:p.Lys6Glu