Canonical Allele Identifier: CA473040190
Gene: DENND5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.9163501C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141954C>G , CM000673.2:g.9141954C>G GRCh38
NC_000011.9:g.9163501C>G , CM000673.1:g.9163501C>G GRCh37
NC_000011.8:g.9120077C>G NCBI36
NG_053019.1:g.128382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3666G>C MANE Select ENSP00000328524.3:p.Val1222=
ENST00000525784.6:n.1528G>C
ENST00000530780.2:c.*3492G>C ENSP00000433925.1:n.*3492G>C
ENST00000531747.2:n.3337G>C
ENST00000679446.1:n.3587G>C
ENST00000679458.1:n.5067G>C
ENST00000679460.1:n.4728G>C
ENST00000679568.1:c.3666G>C ENSP00000505860.1:p.Val1222=
ENST00000679745.1:n.4171G>C
ENST00000679773.1:n.2827G>C
ENST00000679926.1:n.4968G>C
ENST00000679999.1:c.*723G>C ENSP00000505198.1:n.*723G>C
ENST00000680252.1:c.3333G>C
ENST00000680294.1:c.3459G>C ENSP00000506113.1:p.Val1153=
ENST00000680358.1:n.2965G>C
ENST00000680470.1:c.*1447G>C ENSP00000505975.1:n.*1447G>C
ENST00000680554.1:c.*199G>C ENSP00000505621.1:n.*199G>C
ENST00000680576.1:n.5142G>C
ENST00000680599.1:n.3707G>C
ENST00000680742.1:c.*179+20G>C ENSP00000505206.1:n.*179+20G>C
ENST00000680791.1:n.2550G>C
ENST00000680885.1:n.5368G>C
ENST00000681158.1:c.3250G>C
ENST00000681203.1:c.3594G>C ENSP00000506456.1:p.Val1198=
ENST00000681371.1:n.3538G>C
ENST00000681425.1:n.4144G>C
ENST00000681639.1:n.1945G>C
ENST00000328194.7:c.3666G>C ENSP00000328524.3:p.Val1222=
ENST00000525784.5:c.602G>C
ENST00000527700.5:n.3228G>C
ENST00000528725.5:c.362G>C
ENST00000529977.5:n.1567G>C
ENST00000530044.5:c.3646+20G>C ENSP00000435866.1:n.3646+20G>C
ENST00000531747.1:c.902G>C
ENST00000533737.5:c.329G>C
NM_001243254.1:c.3646+20G>C NP_001230183.1:n.3646+20G>C
NM_015213.3:c.3666G>C NP_056028.2:p.Val1222=
XM_005252832.1:c.3666G>C XP_005252889.1:p.Val1222=
XM_011519952.1:c.3646+20G>C XP_011518254.1:n.3646+20G>C
XM_011519953.1:c.1764G>C XP_011518255.1:p.Val588=
XR_242782.2:n.3848G>C
XR_930851.1:n.3828+20G>C
NM_001348749.1:c.3594G>C NP_001335678.1:p.Val1198=
NM_001348750.1:c.3378G>C NP_001335679.1:p.Val1126=
NR_145966.2:n.3840G>C
NM_015213.4:c.3666G>C MANE Select NP_056028.2:p.Val1222=
NM_001243254.2:c.3646+20G>C NP_001230183.1:n.3646+20G>C
NM_001348749.2:c.3594G>C NP_001335678.1:p.Val1198=
NM_001348750.2:c.3378G>C NP_001335679.1:p.Val1126=