Canonical Allele Identifier: CA473040187

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141950-A-G
• MyVariant Identifiers: chr11:g.9163497A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141950A>G , CM000673.2:g.9141950A>G	GRCh38
NC_000011.9:g.9163497A>G , CM000673.1:g.9163497A>G	GRCh37
NC_000011.8:g.9120073A>G	NCBI36
NG_053019.1:g.128386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3670T>C MANE Select	ENSP00000328524.3:p.Leu1224=
ENST00000525784.6:n.1532T>C
ENST00000530780.2:c.*3496T>C	ENSP00000433925.1:n.*3496T>C
ENST00000531747.2:n.3341T>C
ENST00000679446.1:n.3591T>C
ENST00000679458.1:n.5071T>C
ENST00000679460.1:n.4732T>C
ENST00000679568.1:c.3670T>C	ENSP00000505860.1:p.Leu1224=
ENST00000679745.1:n.4175T>C
ENST00000679773.1:n.2831T>C
ENST00000679926.1:n.4972T>C
ENST00000679999.1:c.*727T>C	ENSP00000505198.1:n.*727T>C
ENST00000680252.1:c.3337T>C
ENST00000680294.1:c.3463T>C	ENSP00000506113.1:p.Leu1155=
ENST00000680358.1:n.2969T>C
ENST00000680470.1:c.*1451T>C	ENSP00000505975.1:n.*1451T>C
ENST00000680554.1:c.*203T>C	ENSP00000505621.1:n.*203T>C
ENST00000680576.1:n.5146T>C
ENST00000680599.1:n.3711T>C
ENST00000680742.1:c.*179+24T>C	ENSP00000505206.1:n.*179+24T>C
ENST00000680791.1:n.2554T>C
ENST00000680885.1:n.5372T>C
ENST00000681158.1:c.3254T>C
ENST00000681203.1:c.3598T>C	ENSP00000506456.1:p.Leu1200=
ENST00000681371.1:n.3542T>C
ENST00000681425.1:n.4148T>C
ENST00000681639.1:n.1949T>C
ENST00000328194.7:c.3670T>C	ENSP00000328524.3:p.Leu1224=
ENST00000525784.5:c.606T>C
ENST00000527700.5:n.3232T>C
ENST00000528725.5:c.366T>C
ENST00000529977.5:n.1571T>C
ENST00000530044.5:c.3646+24T>C	ENSP00000435866.1:n.3646+24T>C
ENST00000531747.1:c.906T>C
ENST00000533737.5:c.333T>C
NM_001243254.1:c.3646+24T>C	NP_001230183.1:n.3646+24T>C
NM_015213.3:c.3670T>C	NP_056028.2:p.Leu1224=
XM_005252832.1:c.3670T>C	XP_005252889.1:p.Leu1224=
XM_011519952.1:c.3646+24T>C	XP_011518254.1:n.3646+24T>C
XM_011519953.1:c.1768T>C	XP_011518255.1:p.Leu590=
XR_242782.2:n.3852T>C
XR_930851.1:n.3828+24T>C
NM_001348749.1:c.3598T>C	NP_001335678.1:p.Leu1200=
NM_001348750.1:c.3382T>C	NP_001335679.1:p.Leu1128=
NR_145966.2:n.3844T>C
NM_015213.4:c.3670T>C MANE Select	NP_056028.2:p.Leu1224=
NM_001243254.2:c.3646+24T>C	NP_001230183.1:n.3646+24T>C
NM_001348749.2:c.3598T>C	NP_001335678.1:p.Leu1200=
NM_001348750.2:c.3382T>C	NP_001335679.1:p.Leu1128=