Canonical Allele Identifier: CA92214180
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs890809483
gnomAD v2: 4-9968621-C-T
gnomAD v3: 4-9966997-C-T
gnomAD v4: 4-9966997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9966997C>T , CM000666.2:g.9966997C>T GRCh38
NC_000004.11:g.9968621C>T , CM000666.1:g.9968621C>T GRCh37
NC_000004.10:g.9577719C>T NCBI36
NG_011540.1:g.78252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264784.8:c.681+13595G>A MANE Select ENSP00000264784.3:n.681+13595G>A
ENST00000264784.7:c.681+13595G>A ENSP00000264784.3:n.681+13595G>A
ENST00000309065.7:c.594+13595G>A ENSP00000311383.3:n.594+13595G>A
ENST00000505104.5:n.715+13595G>A
ENST00000506583.5:c.594+13595G>A ENSP00000422209.1:n.594+13595G>A
NM_001001290.1:c.594+13595G>A NP_001001290.1:n.594+13595G>A
NM_020041.2:c.681+13595G>A NP_064425.2:n.681+13595G>A
XM_006713968.2:c.681+13595G>A XP_006714031.1:n.681+13595G>A
XM_006713969.2:c.594+13595G>A XP_006714032.1:n.594+13595G>A
XM_011513856.1:c.681+13595G>A XP_011512158.1:n.681+13595G>A
XM_011513857.1:c.594+13595G>A XP_011512159.1:n.594+13595G>A
XM_011513858.1:c.594+13595G>A XP_011512160.1:n.594+13595G>A
XM_011513859.1:c.681+13595G>A XP_011512161.1:n.681+13595G>A
XM_011513860.1:c.681+13595G>A XP_011512162.1:n.681+13595G>A
XM_011513861.1:c.681+13595G>A XP_011512163.1:n.681+13595G>A
XM_011513862.1:c.285+13595G>A XP_011512164.1:n.285+13595G>A
XM_011513863.1:c.285+13595G>A XP_011512165.1:n.285+13595G>A
XM_011513864.1:c.273+13595G>A XP_011512166.1:n.273+13595G>A
XM_011513865.1:c.681+13595G>A XP_011512167.1:n.681+13595G>A
XM_011513866.1:c.681+13595G>A XP_011512168.1:n.681+13595G>A
XM_011513867.1:c.123+13595G>A XP_011512169.1:n.123+13595G>A
XM_011513868.1:c.681+13595G>A XP_011512170.1:n.681+13595G>A
XR_925341.1:n.777+13595G>A
XM_006713968.4:c.681+13595G>A XP_006714031.1:n.681+13595G>A
XM_011513856.3:c.681+13595G>A XP_011512158.1:n.681+13595G>A
XM_011513859.3:c.681+13595G>A XP_011512161.1:n.681+13595G>A
XM_011513860.3:c.681+13595G>A XP_011512162.1:n.681+13595G>A
XM_011513861.3:c.681+13595G>A XP_011512163.1:n.681+13595G>A
XM_011513862.3:c.285+13595G>A XP_011512164.1:n.285+13595G>A
XM_011513864.2:c.273+13595G>A XP_011512166.1:n.273+13595G>A
XM_011513865.2:c.681+13595G>A XP_011512167.1:n.681+13595G>A
XM_011513866.2:c.681+13595G>A XP_011512168.1:n.681+13595G>A
XM_011513867.3:c.123+13595G>A XP_011512169.1:n.123+13595G>A
XM_011513868.2:c.681+13595G>A XP_011512170.1:n.681+13595G>A
XM_017008457.2:c.681+13595G>A XP_016863946.1:n.681+13595G>A
XM_017008458.2:c.681+13595G>A XP_016863947.1:n.681+13595G>A
XM_017008459.1:c.219+13595G>A XP_016863948.1:n.219+13595G>A
XM_017008460.2:c.285+13595G>A XP_016863949.1:n.285+13595G>A
XM_024454150.1:c.681+13595G>A XP_024309918.1:n.681+13595G>A
XM_024454151.1:c.294+13595G>A XP_024309919.1:n.294+13595G>A
XM_024454152.1:c.681+13595G>A XP_024309920.1:n.681+13595G>A
XM_024454153.1:c.681+13595G>A XP_024309921.1:n.681+13595G>A
XR_001741290.1:n.854+13595G>A
XR_001741291.1:n.854+13595G>A
XR_925341.3:n.858+13595G>A
NM_020041.3:c.681+13595G>A MANE Select NP_064425.2:n.681+13595G>A
NM_001001290.2:c.594+13595G>A NP_001001290.1:n.594+13595G>A