Canonical Allele Identifier: CA379597287

Gene: DENND5A

Linked Data

• dbSNP Id: rs1554909073
• MyVariant Identifiers: chr11:g.9163518T>A (hg19) ; chr11:g.9141971T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141971T>A , CM000673.2:g.9141971T>A	GRCh38
NC_000011.9:g.9163518T>A , CM000673.1:g.9163518T>A	GRCh37
NC_000011.8:g.9120094T>A	NCBI36
NG_053019.1:g.128365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3649A>T MANE Select	ENSP00000328524.3:p.Lys1217Ter
ENST00000525784.6:n.1511A>T
ENST00000530780.2:c.*3475A>T	ENSP00000433925.1:n.*3475A>T
ENST00000531747.2:n.3320A>T
ENST00000679446.1:n.3570A>T
ENST00000679458.1:n.5050A>T
ENST00000679460.1:n.4711A>T
ENST00000679568.1:c.3649A>T	ENSP00000505860.1:p.Lys1217Ter
ENST00000679745.1:n.4154A>T
ENST00000679773.1:n.2810A>T
ENST00000679926.1:n.4951A>T
ENST00000679999.1:c.*706A>T	ENSP00000505198.1:n.*706A>T
ENST00000680252.1:c.3316A>T
ENST00000680294.1:c.3442A>T	ENSP00000506113.1:p.Lys1148Ter
ENST00000680358.1:n.2948A>T
ENST00000680470.1:c.*1430A>T	ENSP00000505975.1:n.*1430A>T
ENST00000680554.1:c.*182A>T	ENSP00000505621.1:n.*182A>T
ENST00000680576.1:n.5125A>T
ENST00000680599.1:n.3690A>T
ENST00000680742.1:c.*179+3A>T	ENSP00000505206.1:n.*179+3A>T
ENST00000680791.1:n.2533A>T
ENST00000680885.1:n.5351A>T
ENST00000681158.1:c.3233A>T
ENST00000681203.1:c.3577A>T	ENSP00000506456.1:p.Lys1193Ter
ENST00000681371.1:n.3521A>T
ENST00000681425.1:n.4127A>T
ENST00000681639.1:n.1928A>T
ENST00000328194.7:c.3649A>T	ENSP00000328524.3:p.Lys1217Ter
ENST00000525784.5:c.585A>T
ENST00000527700.5:n.3211A>T
ENST00000528725.5:c.345A>T
ENST00000529977.5:n.1550A>T
ENST00000530044.5:c.3646+3A>T	ENSP00000435866.1:n.3646+3A>T
ENST00000531747.1:c.885A>T
ENST00000533737.5:c.312A>T
NM_001243254.1:c.3646+3A>T	NP_001230183.1:n.3646+3A>T
NM_015213.3:c.3649A>T	NP_056028.2:p.Lys1217Ter
XM_005252832.1:c.3649A>T	XP_005252889.1:p.Lys1217Ter
XM_011519952.1:c.3646+3A>T	XP_011518254.1:n.3646+3A>T
XM_011519953.1:c.1747A>T	XP_011518255.1:p.Lys583Ter
XR_242782.2:n.3831A>T
XR_930851.1:n.3828+3A>T
NM_001348749.1:c.3577A>T	NP_001335678.1:p.Lys1193Ter
NM_001348750.1:c.3361A>T	NP_001335679.1:p.Lys1121Ter
NR_145966.2:n.3823A>T
NM_015213.4:c.3649A>T MANE Select	NP_056028.2:p.Lys1217Ter
NM_001243254.2:c.3646+3A>T	NP_001230183.1:n.3646+3A>T
NM_001348749.2:c.3577A>T	NP_001335678.1:p.Lys1193Ter
NM_001348750.2:c.3361A>T	NP_001335679.1:p.Lys1121Ter