Canonical Allele Identifier: CA379597673

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163566A>G (hg19) ; chr11:g.9142019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142019A>G , CM000673.2:g.9142019A>G	GRCh38
NC_000011.9:g.9163566A>G , CM000673.1:g.9163566A>G	GRCh37
NC_000011.8:g.9120142A>G	NCBI36
NG_053019.1:g.128317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3601T>C MANE Select	ENSP00000328524.3:p.Phe1201Leu
ENST00000525784.6:n.1463T>C
ENST00000530780.2:c.*3427T>C	ENSP00000433925.1:n.*3427T>C
ENST00000531747.2:n.3272T>C
ENST00000679446.1:n.3522T>C
ENST00000679458.1:n.5002T>C
ENST00000679460.1:n.4663T>C
ENST00000679568.1:c.3601T>C	ENSP00000505860.1:p.Phe1201Leu
ENST00000679745.1:n.4106T>C
ENST00000679773.1:n.2762T>C
ENST00000679926.1:n.4903T>C
ENST00000679999.1:c.*658T>C	ENSP00000505198.1:n.*658T>C
ENST00000680252.1:c.3268T>C
ENST00000680294.1:c.3394T>C	ENSP00000506113.1:p.Phe1132Leu
ENST00000680358.1:n.2900T>C
ENST00000680470.1:c.*1382T>C	ENSP00000505975.1:n.*1382T>C
ENST00000680554.1:c.*134T>C	ENSP00000505621.1:n.*134T>C
ENST00000680576.1:n.5077T>C
ENST00000680599.1:n.3642T>C
ENST00000680742.1:c.*134T>C	ENSP00000505206.1:n.*134T>C
ENST00000680791.1:n.2485T>C
ENST00000680885.1:n.5303T>C
ENST00000681158.1:c.3185T>C
ENST00000681203.1:c.3529T>C	ENSP00000506456.1:p.Phe1177Leu
ENST00000681371.1:n.3473T>C
ENST00000681425.1:n.4079T>C
ENST00000681639.1:n.1880T>C
ENST00000328194.7:c.3601T>C	ENSP00000328524.3:p.Phe1201Leu
ENST00000525784.5:c.537T>C
ENST00000527700.5:n.3163T>C
ENST00000528725.5:c.297T>C
ENST00000529977.5:n.1502T>C
ENST00000530044.5:c.3601T>C	ENSP00000435866.1:p.Phe1201Leu
ENST00000531747.1:c.837T>C
ENST00000533737.5:c.264T>C
NM_001243254.1:c.3601T>C	NP_001230183.1:p.Phe1201Leu
NM_015213.3:c.3601T>C	NP_056028.2:p.Phe1201Leu
XM_005252832.1:c.3601T>C	XP_005252889.1:p.Phe1201Leu
XM_011519952.1:c.3601T>C	XP_011518254.1:p.Phe1201Leu
XM_011519953.1:c.1699T>C	XP_011518255.1:p.Phe567Leu
XR_242782.2:n.3783T>C
XR_930851.1:n.3783T>C
NM_001348749.1:c.3529T>C	NP_001335678.1:p.Phe1177Leu
NM_001348750.1:c.3313T>C	NP_001335679.1:p.Phe1105Leu
NR_145966.2:n.3775T>C
NM_015213.4:c.3601T>C MANE Select	NP_056028.2:p.Phe1201Leu
NM_001243254.2:c.3601T>C	NP_001230183.1:p.Phe1201Leu
NM_001348749.2:c.3529T>C	NP_001335678.1:p.Phe1177Leu
NM_001348750.2:c.3313T>C	NP_001335679.1:p.Phe1105Leu