Canonical Allele Identifier: CA379597904

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163596A>G (hg19) ; chr11:g.9142049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142049A>G , CM000673.2:g.9142049A>G	GRCh38
NC_000011.9:g.9163596A>G , CM000673.1:g.9163596A>G	GRCh37
NC_000011.8:g.9120172A>G	NCBI36
NG_053019.1:g.128287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3571T>C MANE Select	ENSP00000328524.3:p.Trp1191Arg
ENST00000525784.6:n.1433T>C
ENST00000530780.2:c.*3397T>C	ENSP00000433925.1:n.*3397T>C
ENST00000531747.2:n.3242T>C
ENST00000679446.1:n.3492T>C
ENST00000679458.1:n.4972T>C
ENST00000679460.1:n.4633T>C
ENST00000679568.1:c.3571T>C	ENSP00000505860.1:p.Trp1191Arg
ENST00000679745.1:n.4076T>C
ENST00000679773.1:n.2732T>C
ENST00000679926.1:n.4873T>C
ENST00000679999.1:c.*628T>C	ENSP00000505198.1:n.*628T>C
ENST00000680252.1:c.3238T>C
ENST00000680294.1:c.3364T>C	ENSP00000506113.1:p.Trp1122Arg
ENST00000680358.1:n.2870T>C
ENST00000680470.1:c.*1352T>C	ENSP00000505975.1:n.*1352T>C
ENST00000680554.1:c.*104T>C	ENSP00000505621.1:n.*104T>C
ENST00000680576.1:n.5047T>C
ENST00000680599.1:n.3612T>C
ENST00000680742.1:c.*104T>C	ENSP00000505206.1:n.*104T>C
ENST00000680791.1:n.2455T>C
ENST00000680885.1:n.5273T>C
ENST00000681158.1:c.3155T>C
ENST00000681203.1:c.3499T>C	ENSP00000506456.1:p.Trp1167Arg
ENST00000681371.1:n.3443T>C
ENST00000681425.1:n.4049T>C
ENST00000681639.1:n.1850T>C
ENST00000328194.7:c.3571T>C	ENSP00000328524.3:p.Trp1191Arg
ENST00000525784.5:c.507T>C
ENST00000527700.5:n.3133T>C
ENST00000528725.5:c.267T>C
ENST00000529977.5:n.1472T>C
ENST00000530044.5:c.3571T>C	ENSP00000435866.1:p.Trp1191Arg
ENST00000531747.1:c.807T>C
ENST00000533737.5:c.234T>C
NM_001243254.1:c.3571T>C	NP_001230183.1:p.Trp1191Arg
NM_015213.3:c.3571T>C	NP_056028.2:p.Trp1191Arg
XM_005252832.1:c.3571T>C	XP_005252889.1:p.Trp1191Arg
XM_011519952.1:c.3571T>C	XP_011518254.1:p.Trp1191Arg
XM_011519953.1:c.1669T>C	XP_011518255.1:p.Trp557Arg
XR_242782.2:n.3753T>C
XR_930851.1:n.3753T>C
NM_001348749.1:c.3499T>C	NP_001335678.1:p.Trp1167Arg
NM_001348750.1:c.3283T>C	NP_001335679.1:p.Trp1095Arg
NR_145966.2:n.3745T>C
NM_015213.4:c.3571T>C MANE Select	NP_056028.2:p.Trp1191Arg
NM_001243254.2:c.3571T>C	NP_001230183.1:p.Trp1191Arg
NM_001348749.2:c.3499T>C	NP_001335678.1:p.Trp1167Arg
NM_001348750.2:c.3283T>C	NP_001335679.1:p.Trp1095Arg