Canonical Allele Identifier: CA379597374

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163527T>G (hg19) ; chr11:g.9141980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141980T>G , CM000673.2:g.9141980T>G	GRCh38
NC_000011.9:g.9163527T>G , CM000673.1:g.9163527T>G	GRCh37
NC_000011.8:g.9120103T>G	NCBI36
NG_053019.1:g.128356A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3640A>C MANE Select	ENSP00000328524.3:p.Lys1214Gln
ENST00000525784.6:n.1502A>C
ENST00000530780.2:c.*3466A>C	ENSP00000433925.1:n.*3466A>C
ENST00000531747.2:n.3311A>C
ENST00000679446.1:n.3561A>C
ENST00000679458.1:n.5041A>C
ENST00000679460.1:n.4702A>C
ENST00000679568.1:c.3640A>C	ENSP00000505860.1:p.Lys1214Gln
ENST00000679745.1:n.4145A>C
ENST00000679773.1:n.2801A>C
ENST00000679926.1:n.4942A>C
ENST00000679999.1:c.*697A>C	ENSP00000505198.1:n.*697A>C
ENST00000680252.1:c.3307A>C
ENST00000680294.1:c.3433A>C	ENSP00000506113.1:p.Lys1145Gln
ENST00000680358.1:n.2939A>C
ENST00000680470.1:c.*1421A>C	ENSP00000505975.1:n.*1421A>C
ENST00000680554.1:c.*173A>C	ENSP00000505621.1:n.*173A>C
ENST00000680576.1:n.5116A>C
ENST00000680599.1:n.3681A>C
ENST00000680742.1:c.*173A>C	ENSP00000505206.1:n.*173A>C
ENST00000680791.1:n.2524A>C
ENST00000680885.1:n.5342A>C
ENST00000681158.1:c.3224A>C
ENST00000681203.1:c.3568A>C	ENSP00000506456.1:p.Lys1190Gln
ENST00000681371.1:n.3512A>C
ENST00000681425.1:n.4118A>C
ENST00000681639.1:n.1919A>C
ENST00000328194.7:c.3640A>C	ENSP00000328524.3:p.Lys1214Gln
ENST00000525784.5:c.576A>C
ENST00000527700.5:n.3202A>C
ENST00000528725.5:c.336A>C
ENST00000529977.5:n.1541A>C
ENST00000530044.5:c.3640A>C	ENSP00000435866.1:p.Lys1214Gln
ENST00000531747.1:c.876A>C
ENST00000533737.5:c.303A>C
NM_001243254.1:c.3640A>C	NP_001230183.1:p.Lys1214Gln
NM_015213.3:c.3640A>C	NP_056028.2:p.Lys1214Gln
XM_005252832.1:c.3640A>C	XP_005252889.1:p.Lys1214Gln
XM_011519952.1:c.3640A>C	XP_011518254.1:p.Lys1214Gln
XM_011519953.1:c.1738A>C	XP_011518255.1:p.Lys580Gln
XR_242782.2:n.3822A>C
XR_930851.1:n.3822A>C
NM_001348749.1:c.3568A>C	NP_001335678.1:p.Lys1190Gln
NM_001348750.1:c.3352A>C	NP_001335679.1:p.Lys1118Gln
NR_145966.2:n.3814A>C
NM_015213.4:c.3640A>C MANE Select	NP_056028.2:p.Lys1214Gln
NM_001243254.2:c.3640A>C	NP_001230183.1:p.Lys1214Gln
NM_001348749.2:c.3568A>C	NP_001335678.1:p.Lys1190Gln
NM_001348750.2:c.3352A>C	NP_001335679.1:p.Lys1118Gln