Canonical Allele Identifier: CA379597199

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141960-C-A
• MyVariant Identifiers: chr11:g.9163507C>A (hg19) ; chr11:g.9141960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141960C>A , CM000673.2:g.9141960C>A	GRCh38
NC_000011.9:g.9163507C>A , CM000673.1:g.9163507C>A	GRCh37
NC_000011.8:g.9120083C>A	NCBI36
NG_053019.1:g.128376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3660G>T MANE Select	ENSP00000328524.3:p.Met1220Ile
ENST00000525784.6:n.1522G>T
ENST00000530780.2:c.*3486G>T	ENSP00000433925.1:n.*3486G>T
ENST00000531747.2:n.3331G>T
ENST00000679446.1:n.3581G>T
ENST00000679458.1:n.5061G>T
ENST00000679460.1:n.4722G>T
ENST00000679568.1:c.3660G>T	ENSP00000505860.1:p.Met1220Ile
ENST00000679745.1:n.4165G>T
ENST00000679773.1:n.2821G>T
ENST00000679926.1:n.4962G>T
ENST00000679999.1:c.*717G>T	ENSP00000505198.1:n.*717G>T
ENST00000680252.1:c.3327G>T
ENST00000680294.1:c.3453G>T	ENSP00000506113.1:p.Met1151Ile
ENST00000680358.1:n.2959G>T
ENST00000680470.1:c.*1441G>T	ENSP00000505975.1:n.*1441G>T
ENST00000680554.1:c.*193G>T	ENSP00000505621.1:n.*193G>T
ENST00000680576.1:n.5136G>T
ENST00000680599.1:n.3701G>T
ENST00000680742.1:c.*179+14G>T	ENSP00000505206.1:n.*179+14G>T
ENST00000680791.1:n.2544G>T
ENST00000680885.1:n.5362G>T
ENST00000681158.1:c.3244G>T
ENST00000681203.1:c.3588G>T	ENSP00000506456.1:p.Met1196Ile
ENST00000681371.1:n.3532G>T
ENST00000681425.1:n.4138G>T
ENST00000681639.1:n.1939G>T
ENST00000328194.7:c.3660G>T	ENSP00000328524.3:p.Met1220Ile
ENST00000525784.5:c.596G>T
ENST00000527700.5:n.3222G>T
ENST00000528725.5:c.356G>T
ENST00000529977.5:n.1561G>T
ENST00000530044.5:c.3646+14G>T	ENSP00000435866.1:n.3646+14G>T
ENST00000531747.1:c.896G>T
ENST00000533737.5:c.323G>T
NM_001243254.1:c.3646+14G>T	NP_001230183.1:n.3646+14G>T
NM_015213.3:c.3660G>T	NP_056028.2:p.Met1220Ile
XM_005252832.1:c.3660G>T	XP_005252889.1:p.Met1220Ile
XM_011519952.1:c.3646+14G>T	XP_011518254.1:n.3646+14G>T
XM_011519953.1:c.1758G>T	XP_011518255.1:p.Met586Ile
XR_242782.2:n.3842G>T
XR_930851.1:n.3828+14G>T
NM_001348749.1:c.3588G>T	NP_001335678.1:p.Met1196Ile
NM_001348750.1:c.3372G>T	NP_001335679.1:p.Met1124Ile
NR_145966.2:n.3834G>T
NM_015213.4:c.3660G>T MANE Select	NP_056028.2:p.Met1220Ile
NM_001243254.2:c.3646+14G>T	NP_001230183.1:n.3646+14G>T
NM_001348749.2:c.3588G>T	NP_001335678.1:p.Met1196Ile
NM_001348750.2:c.3372G>T	NP_001335679.1:p.Met1124Ile