Canonical Allele Identifier: CA473254545
Gene: DENND5A HGNC NCBI

Linked Data

gnomAD v4: 11-9204272-T-G
MyVariant Identifiers: chr11:g.9225819T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204272T>G , CM000673.2:g.9204272T>G GRCh38
NC_000011.9:g.9225819T>G , CM000673.1:g.9225819T>G GRCh37
NC_000011.8:g.9182395T>G NCBI36
NG_053019.1:g.66064A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.337A>C MANE Select ENSP00000328524.3:p.Arg113=
ENST00000530780.2:c.*163A>C ENSP00000433925.1:n.*163A>C
ENST00000530867.2:n.126A>C
ENST00000532696.2:n.260A>C
ENST00000679446.1:n.258A>C
ENST00000679460.1:n.126A>C
ENST00000679568.1:c.337A>C ENSP00000505860.1:p.Arg113=
ENST00000679745.1:n.126A>C
ENST00000679999.1:c.337A>C ENSP00000505198.1:p.Arg113=
ENST00000680252.1:c.126A>C
ENST00000680294.1:c.337A>C ENSP00000506113.1:p.Arg113=
ENST00000680470.1:c.337A>C ENSP00000505975.1:p.Arg113=
ENST00000680554.1:c.49A>C ENSP00000505621.1:p.Arg17=
ENST00000680576.1:n.126A>C
ENST00000680599.1:n.254A>C
ENST00000680742.1:c.337A>C ENSP00000505206.1:p.Arg113=
ENST00000680885.1:n.258A>C
ENST00000681158.1:c.126A>C
ENST00000681173.1:n.126A>C
ENST00000681203.1:c.265A>C ENSP00000506456.1:p.Arg89=
ENST00000681425.1:n.258A>C
ENST00000681915.1:n.126A>C
ENST00000328194.7:c.337A>C ENSP00000328524.3:p.Arg113=
ENST00000526707.5:c.265A>C ENSP00000436780.1:p.Arg89=
ENST00000530044.5:c.337A>C ENSP00000435866.1:p.Arg113=
ENST00000530780.1:c.*163A>C ENSP00000433925.1:n.*163A>C
ENST00000532696.1:n.92A>C
NM_001243254.1:c.337A>C NP_001230183.1:p.Arg113=
NM_015213.3:c.337A>C NP_056028.2:p.Arg113=
XM_005252832.1:c.337A>C XP_005252889.1:p.Arg113=
XM_011519952.1:c.337A>C XP_011518254.1:p.Arg113=
XR_242782.2:n.602A>C
XR_930851.1:n.602A>C
XR_930852.1:n.602A>C
XR_930853.1:n.602A>C
NM_001348749.1:c.265A>C NP_001335678.1:p.Arg89=
NM_001348750.1:c.49A>C NP_001335679.1:p.Arg17=
NR_145966.2:n.594A>C
NM_015213.4:c.337A>C MANE Select NP_056028.2:p.Arg113=
NM_001243254.2:c.337A>C NP_001230183.1:p.Arg113=
NM_001348749.2:c.265A>C NP_001335678.1:p.Arg89=
NM_001348750.2:c.49A>C NP_001335679.1:p.Arg17=