Canonical Allele Identifier: CA379597342

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141978-C-A
• MyVariant Identifiers: chr11:g.9163525C>A (hg19) ; chr11:g.9141978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141978C>A , CM000673.2:g.9141978C>A	GRCh38
NC_000011.9:g.9163525C>A , CM000673.1:g.9163525C>A	GRCh37
NC_000011.8:g.9120101C>A	NCBI36
NG_053019.1:g.128358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3642G>T MANE Select	ENSP00000328524.3:p.Lys1214Asn
ENST00000525784.6:n.1504G>T
ENST00000530780.2:c.*3468G>T	ENSP00000433925.1:n.*3468G>T
ENST00000531747.2:n.3313G>T
ENST00000679446.1:n.3563G>T
ENST00000679458.1:n.5043G>T
ENST00000679460.1:n.4704G>T
ENST00000679568.1:c.3642G>T	ENSP00000505860.1:p.Lys1214Asn
ENST00000679745.1:n.4147G>T
ENST00000679773.1:n.2803G>T
ENST00000679926.1:n.4944G>T
ENST00000679999.1:c.*699G>T	ENSP00000505198.1:n.*699G>T
ENST00000680252.1:c.3309G>T
ENST00000680294.1:c.3435G>T	ENSP00000506113.1:p.Lys1145Asn
ENST00000680358.1:n.2941G>T
ENST00000680470.1:c.*1423G>T	ENSP00000505975.1:n.*1423G>T
ENST00000680554.1:c.*175G>T	ENSP00000505621.1:n.*175G>T
ENST00000680576.1:n.5118G>T
ENST00000680599.1:n.3683G>T
ENST00000680742.1:c.*175G>T	ENSP00000505206.1:n.*175G>T
ENST00000680791.1:n.2526G>T
ENST00000680885.1:n.5344G>T
ENST00000681158.1:c.3226G>T
ENST00000681203.1:c.3570G>T	ENSP00000506456.1:p.Lys1190Asn
ENST00000681371.1:n.3514G>T
ENST00000681425.1:n.4120G>T
ENST00000681639.1:n.1921G>T
ENST00000328194.7:c.3642G>T	ENSP00000328524.3:p.Lys1214Asn
ENST00000525784.5:c.578G>T
ENST00000527700.5:n.3204G>T
ENST00000528725.5:c.338G>T
ENST00000529977.5:n.1543G>T
ENST00000530044.5:c.3642G>T	ENSP00000435866.1:p.Lys1214Asn
ENST00000531747.1:c.878G>T
ENST00000533737.5:c.305G>T
NM_001243254.1:c.3642G>T	NP_001230183.1:p.Lys1214Asn
NM_015213.3:c.3642G>T	NP_056028.2:p.Lys1214Asn
XM_005252832.1:c.3642G>T	XP_005252889.1:p.Lys1214Asn
XM_011519952.1:c.3642G>T	XP_011518254.1:p.Lys1214Asn
XM_011519953.1:c.1740G>T	XP_011518255.1:p.Lys580Asn
XR_242782.2:n.3824G>T
XR_930851.1:n.3824G>T
NM_001348749.1:c.3570G>T	NP_001335678.1:p.Lys1190Asn
NM_001348750.1:c.3354G>T	NP_001335679.1:p.Lys1118Asn
NR_145966.2:n.3816G>T
NM_015213.4:c.3642G>T MANE Select	NP_056028.2:p.Lys1214Asn
NM_001243254.2:c.3642G>T	NP_001230183.1:p.Lys1214Asn
NM_001348749.2:c.3570G>T	NP_001335678.1:p.Lys1190Asn
NM_001348750.2:c.3354G>T	NP_001335679.1:p.Lys1118Asn