Canonical Allele Identifier: CA389862410

Gene: KIAA0586

Linked Data

• dbSNP Id: rs1453035646
• gnomAD v2: 14-58910738-G-A
• gnomAD v4: 14-58444020-G-A
• MyVariant Identifiers: chr14:g.58910738G>A (hg19) ; chr14:g.58444020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444020G>A , CM000676.2:g.58444020G>A	GRCh38
NC_000014.8:g.58910738G>A , CM000676.1:g.58910738G>A	GRCh37
NC_000014.7:g.57980491G>A	NCBI36
NG_051335.2:g.21636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555203.6:n.342G>A
ENST00000619722.5:c.397G>A	ENSP00000481936.1:p.Asp133Asn
ENST00000650845.1:n.1198G>A
ENST00000650904.1:c.652G>A	ENSP00000498606.1:p.Asp218Asn
ENST00000651937.1:c.607G>A	ENSP00000498785.1:p.Asp203Asn
ENST00000652120.1:n.558G>A
ENST00000652326.2:c.652G>A MANE Select	ENSP00000498929.1:p.Asp218Asn
ENST00000652732.1:c.*218G>A	ENSP00000498799.1:n.*218G>A
ENST00000674802.1:n.884G>A
ENST00000261244.9:c.652G>A	ENSP00000261244.5:p.Asp218Asn
ENST00000354386.10:c.811G>A	ENSP00000346359.6:p.Asp271Asn
ENST00000423743.7:c.520G>A	ENSP00000399427.3:p.Asp174Asn
ENST00000538571.6:n.242G>A
ENST00000555203.5:c.*218G>A	ENSP00000452536.1:n.*218G>A
ENST00000555833.5:c.397G>A	ENSP00000450855.1:p.Asp133Asn
ENST00000556134.5:c.520G>A	ENSP00000452351.2:p.Asp174Asn
ENST00000557590.5:n.615G>A
ENST00000619416.4:c.607G>A	ENSP00000478083.1:p.Asp203Asn
ENST00000619722.4:c.397G>A	ENSP00000481936.1:p.Asp133Asn
NM_001244189.1:c.811G>A	NP_001231118.1:p.Asp271Asn
NM_001244190.1:c.607G>A	NP_001231119.1:p.Asp203Asn
NM_001244191.1:c.397G>A	NP_001231120.1:p.Asp133Asn
NM_001244192.1:c.520G>A	NP_001231121.1:p.Asp174Asn
NM_001244193.1:c.232G>A	NP_001231122.1:p.Asp78Asn
NM_014749.3:c.652G>A	NP_055564.3:p.Asp218Asn
NM_001329943.2:c.652G>A	NP_001316872.1:p.Asp218Asn
NM_001329944.1:c.652G>A	NP_001316873.1:p.Asp218Asn
NM_001329945.1:c.397G>A	NP_001316874.1:p.Asp133Asn
NM_001329946.1:c.652G>A	NP_001316875.1:p.Asp218Asn
NM_001329947.1:c.652G>A	NP_001316876.1:p.Asp218Asn
NM_001364700.1:c.397G>A	NP_001351629.1:p.Asp133Asn
NM_001364701.1:c.397G>A	NP_001351630.1:p.Asp133Asn
NM_014749.4:c.652G>A	NP_055564.3:p.Asp218Asn
XM_024449779.1:c.775G>A	XP_024305547.1:p.Asp259Asn
XM_024449780.1:c.652G>A	XP_024305548.1:p.Asp218Asn
XM_024449781.1:c.775G>A	XP_024305549.1:p.Asp259Asn
XM_024449782.1:c.397G>A	XP_024305550.1:p.Asp133Asn
XM_024449783.1:c.397G>A	XP_024305551.1:p.Asp133Asn
XM_024449784.1:c.397G>A	XP_024305552.1:p.Asp133Asn
XM_024449785.1:c.397G>A	XP_024305553.1:p.Asp133Asn
XM_024449787.1:c.256G>A	XP_024305555.1:p.Asp86Asn
XM_024449788.1:c.232G>A	XP_024305556.1:p.Asp78Asn
XM_024449789.1:c.232G>A	XP_024305557.1:p.Asp78Asn
XM_024449791.1:c.652G>A	XP_024305559.1:p.Asp218Asn
NM_001244189.2:c.811G>A	NP_001231118.1:p.Asp271Asn
NM_001244190.2:c.607G>A	NP_001231119.1:p.Asp203Asn
NM_001244192.2:c.520G>A	NP_001231121.1:p.Asp174Asn
NM_001329943.3:c.652G>A MANE Select	NP_001316872.1:p.Asp218Asn
NM_001329944.2:c.652G>A	NP_001316873.1:p.Asp218Asn
NM_001329945.2:c.397G>A	NP_001316874.1:p.Asp133Asn
NM_001329946.2:c.652G>A	NP_001316875.1:p.Asp218Asn
NM_001329947.2:c.652G>A	NP_001316876.1:p.Asp218Asn
NM_001364701.2:c.397G>A	NP_001351630.1:p.Asp133Asn
NM_014749.5:c.652G>A	NP_055564.3:p.Asp218Asn
NM_001244191.2:c.397G>A	NP_001231120.1:p.Asp133Asn
NM_001244193.2:c.232G>A	NP_001231122.1:p.Asp78Asn