Canonical Allele Identifier: CA379599698
Gene: DENND5A HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.494A>G MANE Select ENSP00000328524.3:p.His165Arg
ENST00000530780.2:c.*320A>G ENSP00000433925.1:n.*320A>G
ENST00000530867.2:n.283A>G
ENST00000532696.2:n.417A>G
ENST00000679446.1:n.415A>G
ENST00000679460.1:n.283A>G
ENST00000679568.1:c.494A>G ENSP00000505860.1:p.His165Arg
ENST00000679745.1:n.283A>G
ENST00000679999.1:c.494A>G ENSP00000505198.1:p.His165Arg
ENST00000680252.1:c.283A>G
ENST00000680294.1:c.494A>G ENSP00000506113.1:p.His165Arg
ENST00000680470.1:c.494A>G ENSP00000505975.1:p.His165Arg
ENST00000680554.1:c.206A>G ENSP00000505621.1:p.His69Arg
ENST00000680576.1:n.283A>G
ENST00000680599.1:n.411A>G
ENST00000680742.1:c.494A>G ENSP00000505206.1:p.His165Arg
ENST00000680885.1:n.415A>G
ENST00000681158.1:c.283A>G
ENST00000681173.1:n.283A>G
ENST00000681203.1:c.422A>G ENSP00000506456.1:p.His141Arg
ENST00000681425.1:n.415A>G
ENST00000681915.1:n.283A>G
ENST00000328194.7:c.494A>G ENSP00000328524.3:p.His165Arg
ENST00000526707.5:c.422A>G ENSP00000436780.1:p.His141Arg
ENST00000530044.5:c.494A>G ENSP00000435866.1:p.His165Arg
ENST00000530780.1:c.*320A>G ENSP00000433925.1:n.*320A>G
ENST00000532696.1:n.249A>G
NM_001243254.1:c.494A>G NP_001230183.1:p.His165Arg
NM_015213.3:c.494A>G NP_056028.2:p.His165Arg
XM_005252832.1:c.494A>G XP_005252889.1:p.His165Arg
XM_011519952.1:c.494A>G XP_011518254.1:p.His165Arg
XR_242782.2:n.759A>G
XR_930851.1:n.759A>G
XR_930852.1:n.759A>G
XR_930853.1:n.759A>G
NM_001348749.1:c.422A>G NP_001335678.1:p.His141Arg
NM_001348750.1:c.206A>G NP_001335679.1:p.His69Arg
NR_145966.2:n.751A>G
NM_015213.4:c.494A>G MANE Select NP_056028.2:p.His165Arg
NM_001243254.2:c.494A>G NP_001230183.1:p.His165Arg
NM_001348749.2:c.422A>G NP_001335678.1:p.His141Arg
NM_001348750.2:c.206A>G NP_001335679.1:p.His69Arg