Canonical Allele Identifier: CA379597313

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163521C>G (hg19) ; chr11:g.9141974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141974C>G , CM000673.2:g.9141974C>G	GRCh38
NC_000011.9:g.9163521C>G , CM000673.1:g.9163521C>G	GRCh37
NC_000011.8:g.9120097C>G	NCBI36
NG_053019.1:g.128362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3646G>C MANE Select	ENSP00000328524.3:p.Gly1216Arg
ENST00000525784.6:n.1508G>C
ENST00000530780.2:c.*3472G>C	ENSP00000433925.1:n.*3472G>C
ENST00000531747.2:n.3317G>C
ENST00000679446.1:n.3567G>C
ENST00000679458.1:n.5047G>C
ENST00000679460.1:n.4708G>C
ENST00000679568.1:c.3646G>C	ENSP00000505860.1:p.Gly1216Arg
ENST00000679745.1:n.4151G>C
ENST00000679773.1:n.2807G>C
ENST00000679926.1:n.4948G>C
ENST00000679999.1:c.*703G>C	ENSP00000505198.1:n.*703G>C
ENST00000680252.1:c.3313G>C
ENST00000680294.1:c.3439G>C	ENSP00000506113.1:p.Gly1147Arg
ENST00000680358.1:n.2945G>C
ENST00000680470.1:c.*1427G>C	ENSP00000505975.1:n.*1427G>C
ENST00000680554.1:c.*179G>C	ENSP00000505621.1:n.*179G>C
ENST00000680576.1:n.5122G>C
ENST00000680599.1:n.3687G>C
ENST00000680742.1:c.*179G>C	ENSP00000505206.1:n.*179G>C
ENST00000680791.1:n.2530G>C
ENST00000680885.1:n.5348G>C
ENST00000681158.1:c.3230G>C
ENST00000681203.1:c.3574G>C	ENSP00000506456.1:p.Gly1192Arg
ENST00000681371.1:n.3518G>C
ENST00000681425.1:n.4124G>C
ENST00000681639.1:n.1925G>C
ENST00000328194.7:c.3646G>C	ENSP00000328524.3:p.Gly1216Arg
ENST00000525784.5:c.582G>C
ENST00000527700.5:n.3208G>C
ENST00000528725.5:c.342G>C
ENST00000529977.5:n.1547G>C
ENST00000530044.5:c.3646G>C	ENSP00000435866.1:p.Glu1216Gln
ENST00000531747.1:c.882G>C
ENST00000533737.5:c.309G>C
NM_001243254.1:c.3646G>C	NP_001230183.1:p.Glu1216Gln
NM_015213.3:c.3646G>C	NP_056028.2:p.Gly1216Arg
XM_005252832.1:c.3646G>C	XP_005252889.1:p.Gly1216Arg
XM_011519952.1:c.3646G>C	XP_011518254.1:p.Gly1216Arg
XM_011519953.1:c.1744G>C	XP_011518255.1:p.Gly582Arg
XR_242782.2:n.3828G>C
XR_930851.1:n.3828G>C
NM_001348749.1:c.3574G>C	NP_001335678.1:p.Gly1192Arg
NM_001348750.1:c.3358G>C	NP_001335679.1:p.Gly1120Arg
NR_145966.2:n.3820G>C
NM_015213.4:c.3646G>C MANE Select	NP_056028.2:p.Gly1216Arg
NM_001243254.2:c.3646G>C	NP_001230183.1:p.Glu1216Gln
NM_001348749.2:c.3574G>C	NP_001335678.1:p.Gly1192Arg
NM_001348750.2:c.3358G>C	NP_001335679.1:p.Gly1120Arg