Canonical Allele Identifier: CA473040193
Gene: DENND5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.9163504C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9141957C>G , CM000673.2:g.9141957C>G GRCh38
NC_000011.9:g.9163504C>G , CM000673.1:g.9163504C>G GRCh37
NC_000011.8:g.9120080C>G NCBI36
NG_053019.1:g.128379G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328194.8:c.3663G>C MANE Select ENSP00000328524.3:p.Leu1221=
ENST00000525784.6:n.1525G>C
ENST00000530780.2:c.*3489G>C ENSP00000433925.1:n.*3489G>C
ENST00000531747.2:n.3334G>C
ENST00000679446.1:n.3584G>C
ENST00000679458.1:n.5064G>C
ENST00000679460.1:n.4725G>C
ENST00000679568.1:c.3663G>C ENSP00000505860.1:p.Leu1221=
ENST00000679745.1:n.4168G>C
ENST00000679773.1:n.2824G>C
ENST00000679926.1:n.4965G>C
ENST00000679999.1:c.*720G>C ENSP00000505198.1:n.*720G>C
ENST00000680252.1:c.3330G>C
ENST00000680294.1:c.3456G>C ENSP00000506113.1:p.Leu1152=
ENST00000680358.1:n.2962G>C
ENST00000680470.1:c.*1444G>C ENSP00000505975.1:n.*1444G>C
ENST00000680554.1:c.*196G>C ENSP00000505621.1:n.*196G>C
ENST00000680576.1:n.5139G>C
ENST00000680599.1:n.3704G>C
ENST00000680742.1:c.*179+17G>C ENSP00000505206.1:n.*179+17G>C
ENST00000680791.1:n.2547G>C
ENST00000680885.1:n.5365G>C
ENST00000681158.1:c.3247G>C
ENST00000681203.1:c.3591G>C ENSP00000506456.1:p.Leu1197=
ENST00000681371.1:n.3535G>C
ENST00000681425.1:n.4141G>C
ENST00000681639.1:n.1942G>C
ENST00000328194.7:c.3663G>C ENSP00000328524.3:p.Leu1221=
ENST00000525784.5:c.599G>C
ENST00000527700.5:n.3225G>C
ENST00000528725.5:c.359G>C
ENST00000529977.5:n.1564G>C
ENST00000530044.5:c.3646+17G>C ENSP00000435866.1:n.3646+17G>C
ENST00000531747.1:c.899G>C
ENST00000533737.5:c.326G>C
NM_001243254.1:c.3646+17G>C NP_001230183.1:n.3646+17G>C
NM_015213.3:c.3663G>C NP_056028.2:p.Leu1221=
XM_005252832.1:c.3663G>C XP_005252889.1:p.Leu1221=
XM_011519952.1:c.3646+17G>C XP_011518254.1:n.3646+17G>C
XM_011519953.1:c.1761G>C XP_011518255.1:p.Leu587=
XR_242782.2:n.3845G>C
XR_930851.1:n.3828+17G>C
NM_001348749.1:c.3591G>C NP_001335678.1:p.Leu1197=
NM_001348750.1:c.3375G>C NP_001335679.1:p.Leu1125=
NR_145966.2:n.3837G>C
NM_015213.4:c.3663G>C MANE Select NP_056028.2:p.Leu1221=
NM_001243254.2:c.3646+17G>C NP_001230183.1:n.3646+17G>C
NM_001348749.2:c.3591G>C NP_001335678.1:p.Leu1197=
NM_001348750.2:c.3375G>C NP_001335679.1:p.Leu1125=