Canonical Allele Identifier: CA379597999

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163605C>G (hg19) ; chr11:g.9142058C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142058C>G , CM000673.2:g.9142058C>G	GRCh38
NC_000011.9:g.9163605C>G , CM000673.1:g.9163605C>G	GRCh37
NC_000011.8:g.9120181C>G	NCBI36
NG_053019.1:g.128278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3562G>C MANE Select	ENSP00000328524.3:p.Glu1188Gln
ENST00000525784.6:n.1424G>C
ENST00000530780.2:c.*3388G>C	ENSP00000433925.1:n.*3388G>C
ENST00000531747.2:n.3233G>C
ENST00000679446.1:n.3483G>C
ENST00000679458.1:n.4963G>C
ENST00000679460.1:n.4624G>C
ENST00000679568.1:c.3562G>C	ENSP00000505860.1:p.Glu1188Gln
ENST00000679745.1:n.4067G>C
ENST00000679773.1:n.2723G>C
ENST00000679926.1:n.4864G>C
ENST00000679999.1:c.*619G>C	ENSP00000505198.1:n.*619G>C
ENST00000680252.1:c.3229G>C
ENST00000680294.1:c.3355G>C	ENSP00000506113.1:p.Glu1119Gln
ENST00000680358.1:n.2861G>C
ENST00000680470.1:c.*1343G>C	ENSP00000505975.1:n.*1343G>C
ENST00000680554.1:c.*95G>C	ENSP00000505621.1:n.*95G>C
ENST00000680576.1:n.5038G>C
ENST00000680599.1:n.3603G>C
ENST00000680742.1:c.*95G>C	ENSP00000505206.1:n.*95G>C
ENST00000680791.1:n.2446G>C
ENST00000680885.1:n.5264G>C
ENST00000681158.1:c.3146G>C
ENST00000681203.1:c.3490G>C	ENSP00000506456.1:p.Glu1164Gln
ENST00000681371.1:n.3434G>C
ENST00000681425.1:n.4040G>C
ENST00000681639.1:n.1841G>C
ENST00000328194.7:c.3562G>C	ENSP00000328524.3:p.Glu1188Gln
ENST00000525784.5:c.498G>C
ENST00000527700.5:n.3124G>C
ENST00000528725.5:c.258G>C
ENST00000529977.5:n.1463G>C
ENST00000530044.5:c.3562G>C	ENSP00000435866.1:p.Glu1188Gln
ENST00000531747.1:c.798G>C
ENST00000533737.5:c.225G>C
NM_001243254.1:c.3562G>C	NP_001230183.1:p.Glu1188Gln
NM_015213.3:c.3562G>C	NP_056028.2:p.Glu1188Gln
XM_005252832.1:c.3562G>C	XP_005252889.1:p.Glu1188Gln
XM_011519952.1:c.3562G>C	XP_011518254.1:p.Glu1188Gln
XM_011519953.1:c.1660G>C	XP_011518255.1:p.Glu554Gln
XR_242782.2:n.3744G>C
XR_930851.1:n.3744G>C
NM_001348749.1:c.3490G>C	NP_001335678.1:p.Glu1164Gln
NM_001348750.1:c.3274G>C	NP_001335679.1:p.Glu1092Gln
NR_145966.2:n.3736G>C
NM_015213.4:c.3562G>C MANE Select	NP_056028.2:p.Glu1188Gln
NM_001243254.2:c.3562G>C	NP_001230183.1:p.Glu1188Gln
NM_001348749.2:c.3490G>C	NP_001335678.1:p.Glu1164Gln
NM_001348750.2:c.3274G>C	NP_001335679.1:p.Glu1092Gln