Canonical Allele Identifier: CA379607807

Gene: DENND5A

Linked Data

• dbSNP Id: rs1299570861
• MyVariant Identifiers: chr11:g.9182288A>G (hg19) ; chr11:g.9160741A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160741A>G , CM000673.2:g.9160741A>G	GRCh38
NC_000011.9:g.9182288A>G , CM000673.1:g.9182288A>G	GRCh37
NC_000011.8:g.9138864A>G	NCBI36
NG_053019.1:g.109595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2408T>C MANE Select	ENSP00000328524.3:p.Ile803Thr
ENST00000530780.2:c.*2234T>C	ENSP00000433925.1:n.*2234T>C
ENST00000679446.1:n.2329T>C
ENST00000679458.1:n.3809T>C
ENST00000679460.1:n.2197T>C
ENST00000679568.1:c.2408T>C	ENSP00000505860.1:p.Ile803Thr
ENST00000679745.1:n.2197T>C
ENST00000679926.1:n.1224T>C
ENST00000679999.1:c.2408T>C	ENSP00000505198.1:p.Ile803Thr
ENST00000680252.1:c.2197T>C
ENST00000680294.1:c.2408T>C	ENSP00000506113.1:p.Ile803Thr
ENST00000680358.1:n.1707T>C
ENST00000680470.1:c.*274T>C	ENSP00000505975.1:n.*274T>C
ENST00000680554.1:c.2120T>C	ENSP00000505621.1:p.Ile707Thr
ENST00000680576.1:n.2197T>C
ENST00000680599.1:n.2325T>C
ENST00000680742.1:c.2408T>C	ENSP00000505206.1:p.Ile803Thr
ENST00000680885.1:n.2329T>C
ENST00000681158.1:c.2197T>C
ENST00000681173.1:n.2197T>C
ENST00000681203.1:c.2336T>C	ENSP00000506456.1:p.Ile779Thr
ENST00000681425.1:n.2329T>C
ENST00000328194.7:c.2408T>C	ENSP00000328524.3:p.Ile803Thr
ENST00000526707.5:c.2336T>C	ENSP00000436780.1:p.Ile779Thr
ENST00000527700.5:n.1970T>C
ENST00000530044.5:c.2408T>C	ENSP00000435866.1:p.Ile803Thr
NM_001243254.1:c.2408T>C	NP_001230183.1:p.Ile803Thr
NM_015213.3:c.2408T>C	NP_056028.2:p.Ile803Thr
XM_005252832.1:c.2408T>C	XP_005252889.1:p.Ile803Thr
XM_011519952.1:c.2408T>C	XP_011518254.1:p.Ile803Thr
XM_011519953.1:c.506T>C	XP_011518255.1:p.Ile169Thr
XR_242782.2:n.2673T>C
XR_930851.1:n.2673T>C
XR_930852.1:n.2673T>C
XR_930853.1:n.2522T>C
NM_001348749.1:c.2336T>C	NP_001335678.1:p.Ile779Thr
NM_001348750.1:c.2120T>C	NP_001335679.1:p.Ile707Thr
NR_145966.2:n.2665T>C
NM_015213.4:c.2408T>C MANE Select	NP_056028.2:p.Ile803Thr
NM_001243254.2:c.2408T>C	NP_001230183.1:p.Ile803Thr
NM_001348749.2:c.2336T>C	NP_001335678.1:p.Ile779Thr
NM_001348750.2:c.2120T>C	NP_001335679.1:p.Ile707Thr