Canonical Allele Identifier: CA473040257

Gene: DENND5A

Linked Data

• dbSNP Id: rs1316069820
• MyVariant Identifiers: chr11:g.9163612T>G (hg19) ; chr11:g.9142065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142065T>G , CM000673.2:g.9142065T>G	GRCh38
NC_000011.9:g.9163612T>G , CM000673.1:g.9163612T>G	GRCh37
NC_000011.8:g.9120188T>G	NCBI36
NG_053019.1:g.128271A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3555A>C MANE Select	ENSP00000328524.3:p.Val1185=
ENST00000525784.6:n.1417A>C
ENST00000530780.2:c.*3381A>C	ENSP00000433925.1:n.*3381A>C
ENST00000531747.2:n.3226A>C
ENST00000679446.1:n.3476A>C
ENST00000679458.1:n.4956A>C
ENST00000679460.1:n.4617A>C
ENST00000679568.1:c.3555A>C	ENSP00000505860.1:p.Val1185=
ENST00000679745.1:n.4060A>C
ENST00000679773.1:n.2716A>C
ENST00000679926.1:n.4857A>C
ENST00000679999.1:c.*612A>C	ENSP00000505198.1:n.*612A>C
ENST00000680252.1:c.3222A>C
ENST00000680294.1:c.3348A>C	ENSP00000506113.1:p.Val1116=
ENST00000680358.1:n.2854A>C
ENST00000680470.1:c.*1336A>C	ENSP00000505975.1:n.*1336A>C
ENST00000680554.1:c.*88A>C	ENSP00000505621.1:n.*88A>C
ENST00000680576.1:n.5031A>C
ENST00000680599.1:n.3596A>C
ENST00000680742.1:c.*88A>C	ENSP00000505206.1:n.*88A>C
ENST00000680791.1:n.2439A>C
ENST00000680885.1:n.5257A>C
ENST00000681158.1:c.3139A>C
ENST00000681203.1:c.3483A>C	ENSP00000506456.1:p.Val1161=
ENST00000681371.1:n.3427A>C
ENST00000681425.1:n.4033A>C
ENST00000681639.1:n.1834A>C
ENST00000328194.7:c.3555A>C	ENSP00000328524.3:p.Val1185=
ENST00000525784.5:c.491A>C
ENST00000527700.5:n.3117A>C
ENST00000528725.5:c.251A>C
ENST00000529977.5:n.1456A>C
ENST00000530044.5:c.3555A>C	ENSP00000435866.1:p.Val1185=
ENST00000531747.1:c.791A>C
ENST00000533737.5:c.218A>C
NM_001243254.1:c.3555A>C	NP_001230183.1:p.Val1185=
NM_015213.3:c.3555A>C	NP_056028.2:p.Val1185=
XM_005252832.1:c.3555A>C	XP_005252889.1:p.Val1185=
XM_011519952.1:c.3555A>C	XP_011518254.1:p.Val1185=
XM_011519953.1:c.1653A>C	XP_011518255.1:p.Val551=
XR_242782.2:n.3737A>C
XR_930851.1:n.3737A>C
NM_001348749.1:c.3483A>C	NP_001335678.1:p.Val1161=
NM_001348750.1:c.3267A>C	NP_001335679.1:p.Val1089=
NR_145966.2:n.3729A>C
NM_015213.4:c.3555A>C MANE Select	NP_056028.2:p.Val1185=
NM_001243254.2:c.3555A>C	NP_001230183.1:p.Val1185=
NM_001348749.2:c.3483A>C	NP_001335678.1:p.Val1161=
NM_001348750.2:c.3267A>C	NP_001335679.1:p.Val1089=