Canonical Allele Identifier: CA379598100

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163622T>C (hg19) ; chr11:g.9142075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142075T>C , CM000673.2:g.9142075T>C	GRCh38
NC_000011.9:g.9163622T>C , CM000673.1:g.9163622T>C	GRCh37
NC_000011.8:g.9120198T>C	NCBI36
NG_053019.1:g.128261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3545A>G MANE Select	ENSP00000328524.3:p.Lys1182Arg
ENST00000525784.6:n.1407A>G
ENST00000530780.2:c.*3371A>G	ENSP00000433925.1:n.*3371A>G
ENST00000531747.2:n.3216A>G
ENST00000679446.1:n.3466A>G
ENST00000679458.1:n.4946A>G
ENST00000679460.1:n.4607A>G
ENST00000679568.1:c.3545A>G	ENSP00000505860.1:p.Lys1182Arg
ENST00000679745.1:n.4050A>G
ENST00000679773.1:n.2706A>G
ENST00000679926.1:n.4847A>G
ENST00000679999.1:c.*602A>G	ENSP00000505198.1:n.*602A>G
ENST00000680252.1:c.3212A>G
ENST00000680294.1:c.3338A>G	ENSP00000506113.1:p.Lys1113Arg
ENST00000680358.1:n.2844A>G
ENST00000680470.1:c.*1326A>G	ENSP00000505975.1:n.*1326A>G
ENST00000680554.1:c.*78A>G	ENSP00000505621.1:n.*78A>G
ENST00000680576.1:n.5021A>G
ENST00000680599.1:n.3586A>G
ENST00000680742.1:c.*78A>G	ENSP00000505206.1:n.*78A>G
ENST00000680791.1:n.2429A>G
ENST00000680885.1:n.5247A>G
ENST00000681158.1:c.3129A>G
ENST00000681203.1:c.3473A>G	ENSP00000506456.1:p.Lys1158Arg
ENST00000681371.1:n.3417A>G
ENST00000681425.1:n.4023A>G
ENST00000681639.1:n.1824A>G
ENST00000328194.7:c.3545A>G	ENSP00000328524.3:p.Lys1182Arg
ENST00000525784.5:c.481A>G
ENST00000527700.5:n.3107A>G
ENST00000528725.5:c.241A>G
ENST00000529977.5:n.1446A>G
ENST00000530044.5:c.3545A>G	ENSP00000435866.1:p.Lys1182Arg
ENST00000531747.1:c.781A>G
ENST00000533737.5:c.208A>G
NM_001243254.1:c.3545A>G	NP_001230183.1:p.Lys1182Arg
NM_015213.3:c.3545A>G	NP_056028.2:p.Lys1182Arg
XM_005252832.1:c.3545A>G	XP_005252889.1:p.Lys1182Arg
XM_011519952.1:c.3545A>G	XP_011518254.1:p.Lys1182Arg
XM_011519953.1:c.1643A>G	XP_011518255.1:p.Lys548Arg
XR_242782.2:n.3727A>G
XR_930851.1:n.3727A>G
NM_001348749.1:c.3473A>G	NP_001335678.1:p.Lys1158Arg
NM_001348750.1:c.3257A>G	NP_001335679.1:p.Lys1086Arg
NR_145966.2:n.3719A>G
NM_015213.4:c.3545A>G MANE Select	NP_056028.2:p.Lys1182Arg
NM_001243254.2:c.3545A>G	NP_001230183.1:p.Lys1182Arg
NM_001348749.2:c.3473A>G	NP_001335678.1:p.Lys1158Arg
NM_001348750.2:c.3257A>G	NP_001335679.1:p.Lys1086Arg