Canonical Allele Identifier: CA379597277

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163516C>G (hg19) ; chr11:g.9141969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141969C>G , CM000673.2:g.9141969C>G	GRCh38
NC_000011.9:g.9163516C>G , CM000673.1:g.9163516C>G	GRCh37
NC_000011.8:g.9120092C>G	NCBI36
NG_053019.1:g.128367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3651G>C MANE Select	ENSP00000328524.3:p.Lys1217Asn
ENST00000525784.6:n.1513G>C
ENST00000530780.2:c.*3477G>C	ENSP00000433925.1:n.*3477G>C
ENST00000531747.2:n.3322G>C
ENST00000679446.1:n.3572G>C
ENST00000679458.1:n.5052G>C
ENST00000679460.1:n.4713G>C
ENST00000679568.1:c.3651G>C	ENSP00000505860.1:p.Lys1217Asn
ENST00000679745.1:n.4156G>C
ENST00000679773.1:n.2812G>C
ENST00000679926.1:n.4953G>C
ENST00000679999.1:c.*708G>C	ENSP00000505198.1:n.*708G>C
ENST00000680252.1:c.3318G>C
ENST00000680294.1:c.3444G>C	ENSP00000506113.1:p.Lys1148Asn
ENST00000680358.1:n.2950G>C
ENST00000680470.1:c.*1432G>C	ENSP00000505975.1:n.*1432G>C
ENST00000680554.1:c.*184G>C	ENSP00000505621.1:n.*184G>C
ENST00000680576.1:n.5127G>C
ENST00000680599.1:n.3692G>C
ENST00000680742.1:c.*179+5G>C	ENSP00000505206.1:n.*179+5G>C
ENST00000680791.1:n.2535G>C
ENST00000680885.1:n.5353G>C
ENST00000681158.1:c.3235G>C
ENST00000681203.1:c.3579G>C	ENSP00000506456.1:p.Lys1193Asn
ENST00000681371.1:n.3523G>C
ENST00000681425.1:n.4129G>C
ENST00000681639.1:n.1930G>C
ENST00000328194.7:c.3651G>C	ENSP00000328524.3:p.Lys1217Asn
ENST00000525784.5:c.587G>C
ENST00000527700.5:n.3213G>C
ENST00000528725.5:c.347G>C
ENST00000529977.5:n.1552G>C
ENST00000530044.5:c.3646+5G>C	ENSP00000435866.1:n.3646+5G>C
ENST00000531747.1:c.887G>C
ENST00000533737.5:c.314G>C
NM_001243254.1:c.3646+5G>C	NP_001230183.1:n.3646+5G>C
NM_015213.3:c.3651G>C	NP_056028.2:p.Lys1217Asn
XM_005252832.1:c.3651G>C	XP_005252889.1:p.Lys1217Asn
XM_011519952.1:c.3646+5G>C	XP_011518254.1:n.3646+5G>C
XM_011519953.1:c.1749G>C	XP_011518255.1:p.Lys583Asn
XR_242782.2:n.3833G>C
XR_930851.1:n.3828+5G>C
NM_001348749.1:c.3579G>C	NP_001335678.1:p.Lys1193Asn
NM_001348750.1:c.3363G>C	NP_001335679.1:p.Lys1121Asn
NR_145966.2:n.3825G>C
NM_015213.4:c.3651G>C MANE Select	NP_056028.2:p.Lys1217Asn
NM_001243254.2:c.3646+5G>C	NP_001230183.1:n.3646+5G>C
NM_001348749.2:c.3579G>C	NP_001335678.1:p.Lys1193Asn
NM_001348750.2:c.3363G>C	NP_001335679.1:p.Lys1121Asn