Canonical Allele Identifier: CA379608568

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9182386C>G (hg19) ; chr11:g.9160839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160839C>G , CM000673.2:g.9160839C>G	GRCh38
NC_000011.9:g.9182386C>G , CM000673.1:g.9182386C>G	GRCh37
NC_000011.8:g.9138962C>G	NCBI36
NG_053019.1:g.109497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2310G>C MANE Select	ENSP00000328524.3:p.Met770Ile
ENST00000530780.2:c.*2136G>C	ENSP00000433925.1:n.*2136G>C
ENST00000679446.1:n.2231G>C
ENST00000679458.1:n.3711G>C
ENST00000679460.1:n.2099G>C
ENST00000679568.1:c.2310G>C	ENSP00000505860.1:p.Met770Ile
ENST00000679745.1:n.2099G>C
ENST00000679926.1:n.1126G>C
ENST00000679999.1:c.2310G>C	ENSP00000505198.1:p.Met770Ile
ENST00000680252.1:c.2099G>C
ENST00000680294.1:c.2310G>C	ENSP00000506113.1:p.Met770Ile
ENST00000680358.1:n.1609G>C
ENST00000680470.1:c.*176G>C	ENSP00000505975.1:n.*176G>C
ENST00000680554.1:c.2022G>C	ENSP00000505621.1:p.Met674Ile
ENST00000680576.1:n.2099G>C
ENST00000680599.1:n.2227G>C
ENST00000680742.1:c.2310G>C	ENSP00000505206.1:p.Met770Ile
ENST00000680885.1:n.2231G>C
ENST00000681158.1:c.2099G>C
ENST00000681173.1:n.2099G>C
ENST00000681203.1:c.2238G>C	ENSP00000506456.1:p.Met746Ile
ENST00000681425.1:n.2231G>C
ENST00000328194.7:c.2310G>C	ENSP00000328524.3:p.Met770Ile
ENST00000526707.5:c.2238G>C	ENSP00000436780.1:p.Met746Ile
ENST00000527700.5:n.1872G>C
ENST00000530044.5:c.2310G>C	ENSP00000435866.1:p.Met770Ile
NM_001243254.1:c.2310G>C	NP_001230183.1:p.Met770Ile
NM_015213.3:c.2310G>C	NP_056028.2:p.Met770Ile
XM_005252832.1:c.2310G>C	XP_005252889.1:p.Met770Ile
XM_011519952.1:c.2310G>C	XP_011518254.1:p.Met770Ile
XM_011519953.1:c.408G>C	XP_011518255.1:p.Met136Ile
XR_242782.2:n.2575G>C
XR_930851.1:n.2575G>C
XR_930852.1:n.2575G>C
XR_930853.1:n.2424G>C
NM_001348749.1:c.2238G>C	NP_001335678.1:p.Met746Ile
NM_001348750.1:c.2022G>C	NP_001335679.1:p.Met674Ile
NR_145966.2:n.2567G>C
NM_015213.4:c.2310G>C MANE Select	NP_056028.2:p.Met770Ile
NM_001243254.2:c.2310G>C	NP_001230183.1:p.Met770Ile
NM_001348749.2:c.2238G>C	NP_001335678.1:p.Met746Ile
NM_001348750.2:c.2022G>C	NP_001335679.1:p.Met674Ile