Canonical Allele Identifier: CA379598798
Gene: DENND5A HGNC NCBI

Linked Data

ClinVar Variation Id: 3081666
ClinVar RCV Id: RCV004371022

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9203980A>G , CM000673.2:g.9203980A>G GRCh38
NC_000011.9:g.9225527A>G , CM000673.1:g.9225527A>G GRCh37
NC_000011.8:g.9182103A>G NCBI36
NG_053019.1:g.66356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.629T>C MANE Select ENSP00000328524.3:p.Ile210Thr
ENST00000530780.2:c.*455T>C ENSP00000433925.1:n.*455T>C
ENST00000530867.2:n.418T>C
ENST00000532696.2:n.552T>C
ENST00000679446.1:n.550T>C
ENST00000679460.1:n.418T>C
ENST00000679568.1:c.629T>C ENSP00000505860.1:p.Ile210Thr
ENST00000679745.1:n.418T>C
ENST00000679999.1:c.629T>C ENSP00000505198.1:p.Ile210Thr
ENST00000680252.1:c.418T>C
ENST00000680294.1:c.629T>C ENSP00000506113.1:p.Ile210Thr
ENST00000680470.1:c.629T>C ENSP00000505975.1:p.Ile210Thr
ENST00000680554.1:c.341T>C ENSP00000505621.1:p.Ile114Thr
ENST00000680576.1:n.418T>C
ENST00000680599.1:n.546T>C
ENST00000680742.1:c.629T>C ENSP00000505206.1:p.Ile210Thr
ENST00000680885.1:n.550T>C
ENST00000681158.1:c.418T>C
ENST00000681173.1:n.418T>C
ENST00000681203.1:c.557T>C ENSP00000506456.1:p.Ile186Thr
ENST00000681425.1:n.550T>C
ENST00000681915.1:n.418T>C
ENST00000328194.7:c.629T>C ENSP00000328524.3:p.Ile210Thr
ENST00000526707.5:c.557T>C ENSP00000436780.1:p.Ile186Thr
ENST00000530044.5:c.629T>C ENSP00000435866.1:p.Ile210Thr
ENST00000532696.1:n.384T>C
NM_001243254.1:c.629T>C NP_001230183.1:p.Ile210Thr
NM_015213.3:c.629T>C NP_056028.2:p.Ile210Thr
XM_005252832.1:c.629T>C XP_005252889.1:p.Ile210Thr
XM_011519952.1:c.629T>C XP_011518254.1:p.Ile210Thr
XR_242782.2:n.894T>C
XR_930851.1:n.894T>C
XR_930852.1:n.894T>C
XR_930853.1:n.894T>C
NM_001348749.1:c.557T>C NP_001335678.1:p.Ile186Thr
NM_001348750.1:c.341T>C NP_001335679.1:p.Ile114Thr
NR_145966.2:n.886T>C
NM_015213.4:c.629T>C MANE Select NP_056028.2:p.Ile210Thr
NM_001243254.2:c.629T>C NP_001230183.1:p.Ile210Thr
NM_001348749.2:c.557T>C NP_001335678.1:p.Ile186Thr
NM_001348750.2:c.341T>C NP_001335679.1:p.Ile114Thr