Canonical Allele Identifier: CA116941
Gene: SLC2A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 4597
ClinVar RCV Id: RCV000004860
dbSNP Id: rs121908322

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9980681G>A , CM000666.2:g.9980681G>A GRCh38
NC_000004.11:g.9982305G>A , CM000666.1:g.9982305G>A GRCh37
NC_000004.10:g.9591403G>A NCBI36
NG_011540.1:g.64568C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264784.8:c.592C>T MANE Select ENSP00000264784.3:p.Arg198Cys
ENST00000264784.7:c.592C>T ENSP00000264784.3:p.Arg198Cys
ENST00000309065.7:c.505C>T ENSP00000311383.3:p.Arg169Cys
ENST00000505104.5:n.626C>T
ENST00000506583.5:c.505C>T ENSP00000422209.1:p.Arg169Cys
ENST00000513129.1:c.505C>T ENSP00000426800.1:p.Arg169Cys
NM_001001290.1:c.505C>T NP_001001290.1:p.Arg169Cys
NM_020041.2:c.592C>T NP_064425.2:p.Arg198Cys
XM_006713968.2:c.592C>T XP_006714031.1:p.Arg198Cys
XM_006713969.2:c.505C>T XP_006714032.1:p.Arg169Cys
XM_011513856.1:c.592C>T XP_011512158.1:p.Arg198Cys
XM_011513857.1:c.505C>T XP_011512159.1:p.Arg169Cys
XM_011513858.1:c.505C>T XP_011512160.1:p.Arg169Cys
XM_011513859.1:c.592C>T XP_011512161.1:p.Arg198Cys
XM_011513860.1:c.592C>T XP_011512162.1:p.Arg198Cys
XM_011513861.1:c.592C>T XP_011512163.1:p.Arg198Cys
XM_011513862.1:c.196C>T XP_011512164.1:p.Arg66Cys
XM_011513863.1:c.196C>T XP_011512165.1:p.Arg66Cys
XM_011513864.1:c.184C>T XP_011512166.1:p.Arg62Cys
XM_011513865.1:c.592C>T XP_011512167.1:p.Arg198Cys
XM_011513866.1:c.592C>T XP_011512168.1:p.Arg198Cys
XM_011513867.1:c.34C>T XP_011512169.1:p.Arg12Cys
XM_011513868.1:c.592C>T XP_011512170.1:p.Arg198Cys
XR_925341.1:n.688C>T
XM_006713968.4:c.592C>T XP_006714031.1:p.Arg198Cys
XM_011513856.3:c.592C>T XP_011512158.1:p.Arg198Cys
XM_011513859.3:c.592C>T XP_011512161.1:p.Arg198Cys
XM_011513860.3:c.592C>T XP_011512162.1:p.Arg198Cys
XM_011513861.3:c.592C>T XP_011512163.1:p.Arg198Cys
XM_011513862.3:c.196C>T XP_011512164.1:p.Arg66Cys
XM_011513864.2:c.184C>T XP_011512166.1:p.Arg62Cys
XM_011513865.2:c.592C>T XP_011512167.1:p.Arg198Cys
XM_011513866.2:c.592C>T XP_011512168.1:p.Arg198Cys
XM_011513867.3:c.34C>T XP_011512169.1:p.Arg12Cys
XM_011513868.2:c.592C>T XP_011512170.1:p.Arg198Cys
XM_017008457.2:c.592C>T XP_016863946.1:p.Arg198Cys
XM_017008458.2:c.592C>T XP_016863947.1:p.Arg198Cys
XM_017008459.1:c.130C>T XP_016863948.1:p.Arg44Cys
XM_017008460.2:c.196C>T XP_016863949.1:p.Arg66Cys
XM_024454150.1:c.592C>T XP_024309918.1:p.Arg198Cys
XM_024454151.1:c.205C>T XP_024309919.1:p.Arg69Cys
XM_024454152.1:c.592C>T XP_024309920.1:p.Arg198Cys
XM_024454153.1:c.592C>T XP_024309921.1:p.Arg198Cys
XR_001741290.1:n.765C>T
XR_001741291.1:n.765C>T
XR_925341.3:n.769C>T
NM_020041.3:c.592C>T MANE Select NP_064425.2:p.Arg198Cys
NM_001001290.2:c.505C>T NP_001001290.1:p.Arg169Cys