Canonical Allele Identifier: CA379598423

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2318047
• ClinVar RCV Id: RCV002888615
• dbSNP Id: rs964003655
• gnomAD v2: 11-9225481-T-A
• gnomAD v3: 11-9203934-T-A
• gnomAD v4: 11-9203934-T-A
• MyVariant Identifiers: chr11:g.9225481T>A (hg19) ; chr11:g.9203934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203934T>A , CM000673.2:g.9203934T>A	GRCh38
NC_000011.9:g.9225481T>A , CM000673.1:g.9225481T>A	GRCh37
NC_000011.8:g.9182057T>A	NCBI36
NG_053019.1:g.66402A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.675A>T MANE Select	ENSP00000328524.3:p.Gln225His
ENST00000530780.2:c.*501A>T	ENSP00000433925.1:n.*501A>T
ENST00000530867.2:n.464A>T
ENST00000532696.2:n.598A>T
ENST00000679446.1:n.596A>T
ENST00000679460.1:n.464A>T
ENST00000679568.1:c.675A>T	ENSP00000505860.1:p.Gln225His
ENST00000679745.1:n.464A>T
ENST00000679999.1:c.675A>T	ENSP00000505198.1:p.Gln225His
ENST00000680252.1:c.464A>T
ENST00000680294.1:c.675A>T	ENSP00000506113.1:p.Gln225His
ENST00000680470.1:c.675A>T	ENSP00000505975.1:p.Gln225His
ENST00000680554.1:c.387A>T	ENSP00000505621.1:p.Gln129His
ENST00000680576.1:n.464A>T
ENST00000680599.1:n.592A>T
ENST00000680742.1:c.675A>T	ENSP00000505206.1:p.Gln225His
ENST00000680885.1:n.596A>T
ENST00000681158.1:c.464A>T
ENST00000681173.1:n.464A>T
ENST00000681203.1:c.603A>T	ENSP00000506456.1:p.Gln201His
ENST00000681425.1:n.596A>T
ENST00000681915.1:n.464A>T
ENST00000328194.7:c.675A>T	ENSP00000328524.3:p.Gln225His
ENST00000526707.5:c.603A>T	ENSP00000436780.1:p.Gln201His
ENST00000530044.5:c.675A>T	ENSP00000435866.1:p.Gln225His
ENST00000532696.1:n.430A>T
NM_001243254.1:c.675A>T	NP_001230183.1:p.Gln225His
NM_015213.3:c.675A>T	NP_056028.2:p.Gln225His
XM_005252832.1:c.675A>T	XP_005252889.1:p.Gln225His
XM_011519952.1:c.675A>T	XP_011518254.1:p.Gln225His
XR_242782.2:n.940A>T
XR_930851.1:n.940A>T
XR_930852.1:n.940A>T
XR_930853.1:n.940A>T
NM_001348749.1:c.603A>T	NP_001335678.1:p.Gln201His
NM_001348750.1:c.387A>T	NP_001335679.1:p.Gln129His
NR_145966.2:n.932A>T
NM_015213.4:c.675A>T MANE Select	NP_056028.2:p.Gln225His
NM_001243254.2:c.675A>T	NP_001230183.1:p.Gln225His
NM_001348749.2:c.603A>T	NP_001335678.1:p.Gln201His
NM_001348750.2:c.387A>T	NP_001335679.1:p.Gln129His