Canonical Allele Identifier: CA2857028
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs759074858
gnomAD v2: 4-9922062-C-T
gnomAD v3: 4-9920438-C-T
gnomAD v4: 4-9920438-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9920438C>T , CM000666.2:g.9920438C>T GRCh38
NC_000004.11:g.9922062C>T , CM000666.1:g.9922062C>T GRCh37
NC_000004.10:g.9531160C>T NCBI36
NG_011540.1:g.124811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264784.8:c.949G>A MANE Select ENSP00000264784.3:p.Val317Met
ENST00000264784.7:c.949G>A ENSP00000264784.3:p.Val317Met
ENST00000309065.7:c.862G>A ENSP00000311383.3:p.Val288Met
ENST00000505104.5:n.983G>A
ENST00000506583.5:c.862G>A ENSP00000422209.1:p.Val288Met
NM_001001290.1:c.862G>A NP_001001290.1:p.Val288Met
NM_020041.2:c.949G>A NP_064425.2:p.Val317Met
XM_006713968.2:c.949G>A XP_006714031.1:p.Val317Met
XM_006713969.2:c.862G>A XP_006714032.1:p.Val288Met
XM_011513856.1:c.949G>A XP_011512158.1:p.Val317Met
XM_011513857.1:c.862G>A XP_011512159.1:p.Val288Met
XM_011513858.1:c.862G>A XP_011512160.1:p.Val288Met
XM_011513859.1:c.949G>A XP_011512161.1:p.Val317Met
XM_011513860.1:c.949G>A XP_011512162.1:p.Val317Met
XM_011513861.1:c.949G>A XP_011512163.1:p.Val317Met
XM_011513862.1:c.553G>A XP_011512164.1:p.Val185Met
XM_011513863.1:c.553G>A XP_011512165.1:p.Val185Met
XM_011513864.1:c.541G>A XP_011512166.1:p.Val181Met
XM_011513865.1:c.949G>A XP_011512167.1:p.Val317Met
XM_011513866.1:c.949G>A XP_011512168.1:p.Val317Met
XM_011513867.1:c.391G>A XP_011512169.1:p.Val131Met
XM_011513868.1:c.949G>A XP_011512170.1:p.Val317Met
XR_925341.1:n.1045G>A
XM_006713968.4:c.949G>A XP_006714031.1:p.Val317Met
XM_011513856.3:c.949G>A XP_011512158.1:p.Val317Met
XM_011513859.3:c.949G>A XP_011512161.1:p.Val317Met
XM_011513860.3:c.949G>A XP_011512162.1:p.Val317Met
XM_011513861.3:c.949G>A XP_011512163.1:p.Val317Met
XM_011513862.3:c.553G>A XP_011512164.1:p.Val185Met
XM_011513864.2:c.541G>A XP_011512166.1:p.Val181Met
XM_011513865.2:c.949G>A XP_011512167.1:p.Val317Met
XM_011513866.2:c.949G>A XP_011512168.1:p.Val317Met
XM_011513867.3:c.391G>A XP_011512169.1:p.Val131Met
XM_011513868.2:c.949G>A XP_011512170.1:p.Val317Met
XM_017008457.2:c.949G>A XP_016863946.1:p.Val317Met
XM_017008458.2:c.949G>A XP_016863947.1:p.Val317Met
XM_017008459.1:c.487G>A XP_016863948.1:p.Val163Met
XM_017008460.2:c.553G>A XP_016863949.1:p.Val185Met
XM_024454150.1:c.949G>A XP_024309918.1:p.Val317Met
XM_024454151.1:c.562G>A XP_024309919.1:p.Val188Met
XM_024454152.1:c.949G>A XP_024309920.1:p.Val317Met
XM_024454153.1:c.949G>A XP_024309921.1:p.Val317Met
XR_001741290.1:n.1122G>A
XR_001741291.1:n.1122G>A
XR_925341.3:n.1126G>A
NM_020041.3:c.949G>A MANE Select NP_064425.2:p.Val317Met
NM_001001290.2:c.862G>A NP_001001290.1:p.Val288Met