Canonical Allele Identifier: CA5877810
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs774059113
gnomAD v2: 11-9225662-T-G
gnomAD v4: 11-9204115-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204115T>G , CM000673.2:g.9204115T>G GRCh38
NC_000011.9:g.9225662T>G , CM000673.1:g.9225662T>G GRCh37
NC_000011.8:g.9182238T>G NCBI36
NG_053019.1:g.66221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.494A>C MANE Select ENSP00000328524.3:p.His165Pro
ENST00000530780.2:c.*320A>C ENSP00000433925.1:n.*320A>C
ENST00000530867.2:n.283A>C
ENST00000532696.2:n.417A>C
ENST00000679446.1:n.415A>C
ENST00000679460.1:n.283A>C
ENST00000679568.1:c.494A>C ENSP00000505860.1:p.His165Pro
ENST00000679745.1:n.283A>C
ENST00000679999.1:c.494A>C ENSP00000505198.1:p.His165Pro
ENST00000680252.1:c.283A>C
ENST00000680294.1:c.494A>C ENSP00000506113.1:p.His165Pro
ENST00000680470.1:c.494A>C ENSP00000505975.1:p.His165Pro
ENST00000680554.1:c.206A>C ENSP00000505621.1:p.His69Pro
ENST00000680576.1:n.283A>C
ENST00000680599.1:n.411A>C
ENST00000680742.1:c.494A>C ENSP00000505206.1:p.His165Pro
ENST00000680885.1:n.415A>C
ENST00000681158.1:c.283A>C
ENST00000681173.1:n.283A>C
ENST00000681203.1:c.422A>C ENSP00000506456.1:p.His141Pro
ENST00000681425.1:n.415A>C
ENST00000681915.1:n.283A>C
ENST00000328194.7:c.494A>C ENSP00000328524.3:p.His165Pro
ENST00000526707.5:c.422A>C ENSP00000436780.1:p.His141Pro
ENST00000530044.5:c.494A>C ENSP00000435866.1:p.His165Pro
ENST00000530780.1:c.*320A>C ENSP00000433925.1:n.*320A>C
ENST00000532696.1:n.249A>C
NM_001243254.1:c.494A>C NP_001230183.1:p.His165Pro
NM_015213.3:c.494A>C NP_056028.2:p.His165Pro
XM_005252832.1:c.494A>C XP_005252889.1:p.His165Pro
XM_011519952.1:c.494A>C XP_011518254.1:p.His165Pro
XR_242782.2:n.759A>C
XR_930851.1:n.759A>C
XR_930852.1:n.759A>C
XR_930853.1:n.759A>C
NM_001348749.1:c.422A>C NP_001335678.1:p.His141Pro
NM_001348750.1:c.206A>C NP_001335679.1:p.His69Pro
NR_145966.2:n.751A>C
NM_015213.4:c.494A>C MANE Select NP_056028.2:p.His165Pro
NM_001243254.2:c.494A>C NP_001230183.1:p.His165Pro
NM_001348749.2:c.422A>C NP_001335678.1:p.His141Pro
NM_001348750.2:c.206A>C NP_001335679.1:p.His69Pro