Canonical Allele Identifier: CA92426701
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs990489737
gnomAD v3: 4-9920498-T-G
gnomAD v4: 4-9920498-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9920498T>G , CM000666.2:g.9920498T>G GRCh38
NC_000004.11:g.9922122T>G , CM000666.1:g.9922122T>G GRCh37
NC_000004.10:g.9531220T>G NCBI36
NG_011540.1:g.124751A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264784.8:c.889A>C MANE Select ENSP00000264784.3:p.Arg297=
ENST00000264784.7:c.889A>C ENSP00000264784.3:p.Arg297=
ENST00000309065.7:c.802A>C ENSP00000311383.3:p.Arg268=
ENST00000505104.5:n.923A>C
ENST00000506583.5:c.802A>C ENSP00000422209.1:p.Arg268=
NM_001001290.1:c.802A>C NP_001001290.1:p.Arg268=
NM_020041.2:c.889A>C NP_064425.2:p.Arg297=
XM_006713968.2:c.889A>C XP_006714031.1:p.Arg297=
XM_006713969.2:c.802A>C XP_006714032.1:p.Arg268=
XM_011513856.1:c.889A>C XP_011512158.1:p.Arg297=
XM_011513857.1:c.802A>C XP_011512159.1:p.Arg268=
XM_011513858.1:c.802A>C XP_011512160.1:p.Arg268=
XM_011513859.1:c.889A>C XP_011512161.1:p.Arg297=
XM_011513860.1:c.889A>C XP_011512162.1:p.Arg297=
XM_011513861.1:c.889A>C XP_011512163.1:p.Arg297=
XM_011513862.1:c.493A>C XP_011512164.1:p.Arg165=
XM_011513863.1:c.493A>C XP_011512165.1:p.Arg165=
XM_011513864.1:c.481A>C XP_011512166.1:p.Arg161=
XM_011513865.1:c.889A>C XP_011512167.1:p.Arg297=
XM_011513866.1:c.889A>C XP_011512168.1:p.Arg297=
XM_011513867.1:c.331A>C XP_011512169.1:p.Arg111=
XM_011513868.1:c.889A>C XP_011512170.1:p.Arg297=
XR_925341.1:n.985A>C
XM_006713968.4:c.889A>C XP_006714031.1:p.Arg297=
XM_011513856.3:c.889A>C XP_011512158.1:p.Arg297=
XM_011513859.3:c.889A>C XP_011512161.1:p.Arg297=
XM_011513860.3:c.889A>C XP_011512162.1:p.Arg297=
XM_011513861.3:c.889A>C XP_011512163.1:p.Arg297=
XM_011513862.3:c.493A>C XP_011512164.1:p.Arg165=
XM_011513864.2:c.481A>C XP_011512166.1:p.Arg161=
XM_011513865.2:c.889A>C XP_011512167.1:p.Arg297=
XM_011513866.2:c.889A>C XP_011512168.1:p.Arg297=
XM_011513867.3:c.331A>C XP_011512169.1:p.Arg111=
XM_011513868.2:c.889A>C XP_011512170.1:p.Arg297=
XM_017008457.2:c.889A>C XP_016863946.1:p.Arg297=
XM_017008458.2:c.889A>C XP_016863947.1:p.Arg297=
XM_017008459.1:c.427A>C XP_016863948.1:p.Arg143=
XM_017008460.2:c.493A>C XP_016863949.1:p.Arg165=
XM_024454150.1:c.889A>C XP_024309918.1:p.Arg297=
XM_024454151.1:c.502A>C XP_024309919.1:p.Arg168=
XM_024454152.1:c.889A>C XP_024309920.1:p.Arg297=
XM_024454153.1:c.889A>C XP_024309921.1:p.Arg297=
XR_001741290.1:n.1062A>C
XR_001741291.1:n.1062A>C
XR_925341.3:n.1066A>C
NM_020041.3:c.889A>C MANE Select NP_064425.2:p.Arg297=
NM_001001290.2:c.802A>C NP_001001290.1:p.Arg268=