Canonical Allele Identifier: CA379597088

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163487C>G (hg19) ; chr11:g.9141940C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141940C>G , CM000673.2:g.9141940C>G	GRCh38
NC_000011.9:g.9163487C>G , CM000673.1:g.9163487C>G	GRCh37
NC_000011.8:g.9120063C>G	NCBI36
NG_053019.1:g.128396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3680G>C MANE Select	ENSP00000328524.3:p.Arg1227Thr
ENST00000525784.6:n.1542G>C
ENST00000530780.2:c.*3506G>C	ENSP00000433925.1:n.*3506G>C
ENST00000531747.2:n.3351G>C
ENST00000679446.1:n.3601G>C
ENST00000679458.1:n.5081G>C
ENST00000679460.1:n.4742G>C
ENST00000679568.1:c.3680G>C	ENSP00000505860.1:p.Arg1227Thr
ENST00000679745.1:n.4185G>C
ENST00000679773.1:n.2841G>C
ENST00000679926.1:n.4982G>C
ENST00000679999.1:c.*737G>C	ENSP00000505198.1:n.*737G>C
ENST00000680252.1:c.3347G>C
ENST00000680294.1:c.3473G>C	ENSP00000506113.1:p.Arg1158Thr
ENST00000680358.1:n.2979G>C
ENST00000680470.1:c.*1461G>C	ENSP00000505975.1:n.*1461G>C
ENST00000680554.1:c.*213G>C	ENSP00000505621.1:n.*213G>C
ENST00000680576.1:n.5156G>C
ENST00000680599.1:n.3721G>C
ENST00000680742.1:c.*179+34G>C	ENSP00000505206.1:n.*179+34G>C
ENST00000680791.1:n.2564G>C
ENST00000680885.1:n.5382G>C
ENST00000681158.1:c.3264G>C
ENST00000681203.1:c.3608G>C	ENSP00000506456.1:p.Arg1203Thr
ENST00000681371.1:n.3552G>C
ENST00000681425.1:n.4158G>C
ENST00000681639.1:n.1959G>C
ENST00000328194.7:c.3680G>C	ENSP00000328524.3:p.Arg1227Thr
ENST00000525784.5:c.616G>C
ENST00000527700.5:n.3242G>C
ENST00000528725.5:c.376G>C
ENST00000529977.5:n.1581G>C
ENST00000530044.5:c.3646+34G>C	ENSP00000435866.1:n.3646+34G>C
ENST00000533737.5:c.343G>C
NM_001243254.1:c.3646+34G>C	NP_001230183.1:n.3646+34G>C
NM_015213.3:c.3680G>C	NP_056028.2:p.Arg1227Thr
XM_005252832.1:c.3680G>C	XP_005252889.1:p.Arg1227Thr
XM_011519952.1:c.3646+34G>C	XP_011518254.1:n.3646+34G>C
XM_011519953.1:c.1778G>C	XP_011518255.1:p.Arg593Thr
XR_242782.2:n.3862G>C
XR_930851.1:n.3828+34G>C
NM_001348749.1:c.3608G>C	NP_001335678.1:p.Arg1203Thr
NM_001348750.1:c.3392G>C	NP_001335679.1:p.Arg1131Thr
NR_145966.2:n.3854G>C
NM_015213.4:c.3680G>C MANE Select	NP_056028.2:p.Arg1227Thr
NM_001243254.2:c.3646+34G>C	NP_001230183.1:n.3646+34G>C
NM_001348749.2:c.3608G>C	NP_001335678.1:p.Arg1203Thr
NM_001348750.2:c.3392G>C	NP_001335679.1:p.Arg1131Thr