Canonical Allele Identifier: CA15341247
Gene: SLC2A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 4593
ClinVar RCV Id: RCV000004856
dbSNP Id: rs7442295
gnomAD v2: 4-9966380-A-G
gnomAD v3: 4-9964756-A-G
gnomAD v4: 4-9964756-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9964756A>G , CM000666.2:g.9964756A>G GRCh38
NC_000004.11:g.9966380A>G , CM000666.1:g.9966380A>G GRCh37
NC_000004.10:g.9575478A>G NCBI36
NG_011540.1:g.80493T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264784.8:c.681+15836T>C MANE Select ENSP00000264784.3:n.681+15836T>C
ENST00000264784.7:c.681+15836T>C ENSP00000264784.3:n.681+15836T>C
ENST00000309065.7:c.594+15836T>C ENSP00000311383.3:n.594+15836T>C
ENST00000505104.5:n.715+15836T>C
ENST00000506583.5:c.594+15836T>C ENSP00000422209.1:n.594+15836T>C
NM_001001290.1:c.594+15836T>C NP_001001290.1:n.594+15836T>C
NM_020041.2:c.681+15836T>C NP_064425.2:n.681+15836T>C
XM_006713968.2:c.681+15836T>C XP_006714031.1:n.681+15836T>C
XM_006713969.2:c.594+15836T>C XP_006714032.1:n.594+15836T>C
XM_011513856.1:c.681+15836T>C XP_011512158.1:n.681+15836T>C
XM_011513857.1:c.594+15836T>C XP_011512159.1:n.594+15836T>C
XM_011513858.1:c.594+15836T>C XP_011512160.1:n.594+15836T>C
XM_011513859.1:c.681+15836T>C XP_011512161.1:n.681+15836T>C
XM_011513860.1:c.681+15836T>C XP_011512162.1:n.681+15836T>C
XM_011513861.1:c.681+15836T>C XP_011512163.1:n.681+15836T>C
XM_011513862.1:c.285+15836T>C XP_011512164.1:n.285+15836T>C
XM_011513863.1:c.285+15836T>C XP_011512165.1:n.285+15836T>C
XM_011513864.1:c.273+15836T>C XP_011512166.1:n.273+15836T>C
XM_011513865.1:c.681+15836T>C XP_011512167.1:n.681+15836T>C
XM_011513866.1:c.681+15836T>C XP_011512168.1:n.681+15836T>C
XM_011513867.1:c.123+15836T>C XP_011512169.1:n.123+15836T>C
XM_011513868.1:c.681+15836T>C XP_011512170.1:n.681+15836T>C
XR_925341.1:n.777+15836T>C
XM_006713968.4:c.681+15836T>C XP_006714031.1:n.681+15836T>C
XM_011513856.3:c.681+15836T>C XP_011512158.1:n.681+15836T>C
XM_011513859.3:c.681+15836T>C XP_011512161.1:n.681+15836T>C
XM_011513860.3:c.681+15836T>C XP_011512162.1:n.681+15836T>C
XM_011513861.3:c.681+15836T>C XP_011512163.1:n.681+15836T>C
XM_011513862.3:c.285+15836T>C XP_011512164.1:n.285+15836T>C
XM_011513864.2:c.273+15836T>C XP_011512166.1:n.273+15836T>C
XM_011513865.2:c.681+15836T>C XP_011512167.1:n.681+15836T>C
XM_011513866.2:c.681+15836T>C XP_011512168.1:n.681+15836T>C
XM_011513867.3:c.123+15836T>C XP_011512169.1:n.123+15836T>C
XM_011513868.2:c.681+15836T>C XP_011512170.1:n.681+15836T>C
XM_017008457.2:c.681+15836T>C XP_016863946.1:n.681+15836T>C
XM_017008458.2:c.681+15836T>C XP_016863947.1:n.681+15836T>C
XM_017008459.1:c.219+15836T>C XP_016863948.1:n.219+15836T>C
XM_017008460.2:c.285+15836T>C XP_016863949.1:n.285+15836T>C
XM_024454150.1:c.681+15836T>C XP_024309918.1:n.681+15836T>C
XM_024454151.1:c.294+15836T>C XP_024309919.1:n.294+15836T>C
XM_024454152.1:c.681+15836T>C XP_024309920.1:n.681+15836T>C
XM_024454153.1:c.681+15836T>C XP_024309921.1:n.681+15836T>C
XR_001741290.1:n.854+15836T>C
XR_001741291.1:n.854+15836T>C
XR_925341.3:n.858+15836T>C
NM_020041.3:c.681+15836T>C MANE Select NP_064425.2:n.681+15836T>C
NM_001001290.2:c.594+15836T>C NP_001001290.1:n.594+15836T>C