Canonical Allele Identifier: CA217547787
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs373169544
gnomAD v2: 11-9225564-G-A
gnomAD v3: 11-9204017-G-A
gnomAD v4: 11-9204017-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204017G>A , CM000673.2:g.9204017G>A GRCh38
NC_000011.9:g.9225564G>A , CM000673.1:g.9225564G>A GRCh37
NC_000011.8:g.9182140G>A NCBI36
NG_053019.1:g.66319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.592C>T MANE Select ENSP00000328524.3:p.Arg198Trp
ENST00000530780.2:c.*418C>T ENSP00000433925.1:n.*418C>T
ENST00000530867.2:n.381C>T
ENST00000532696.2:n.515C>T
ENST00000679446.1:n.513C>T
ENST00000679460.1:n.381C>T
ENST00000679568.1:c.592C>T ENSP00000505860.1:p.Arg198Trp
ENST00000679745.1:n.381C>T
ENST00000679999.1:c.592C>T ENSP00000505198.1:p.Arg198Trp
ENST00000680252.1:c.381C>T
ENST00000680294.1:c.592C>T ENSP00000506113.1:p.Arg198Trp
ENST00000680470.1:c.592C>T ENSP00000505975.1:p.Arg198Trp
ENST00000680554.1:c.304C>T ENSP00000505621.1:p.Arg102Trp
ENST00000680576.1:n.381C>T
ENST00000680599.1:n.509C>T
ENST00000680742.1:c.592C>T ENSP00000505206.1:p.Arg198Trp
ENST00000680885.1:n.513C>T
ENST00000681158.1:c.381C>T
ENST00000681173.1:n.381C>T
ENST00000681203.1:c.520C>T ENSP00000506456.1:p.Arg174Trp
ENST00000681425.1:n.513C>T
ENST00000681915.1:n.381C>T
ENST00000328194.7:c.592C>T ENSP00000328524.3:p.Arg198Trp
ENST00000526707.5:c.520C>T ENSP00000436780.1:p.Arg174Trp
ENST00000530044.5:c.592C>T ENSP00000435866.1:p.Arg198Trp
ENST00000532696.1:n.347C>T
NM_001243254.1:c.592C>T NP_001230183.1:p.Arg198Trp
NM_015213.3:c.592C>T NP_056028.2:p.Arg198Trp
XM_005252832.1:c.592C>T XP_005252889.1:p.Arg198Trp
XM_011519952.1:c.592C>T XP_011518254.1:p.Arg198Trp
XR_242782.2:n.857C>T
XR_930851.1:n.857C>T
XR_930852.1:n.857C>T
XR_930853.1:n.857C>T
NM_001348749.1:c.520C>T NP_001335678.1:p.Arg174Trp
NM_001348750.1:c.304C>T NP_001335679.1:p.Arg102Trp
NR_145966.2:n.849C>T
NM_015213.4:c.592C>T MANE Select NP_056028.2:p.Arg198Trp
NM_001243254.2:c.592C>T NP_001230183.1:p.Arg198Trp
NM_001348749.2:c.520C>T NP_001335678.1:p.Arg174Trp
NM_001348750.2:c.304C>T NP_001335679.1:p.Arg102Trp