Canonical Allele Identifier: CA356399637

Gene: SLC2A9

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9887623G>A , CM000666.2:g.9887623G>A	GRCh38
NC_000004.11:g.9889247G>A , CM000666.1:g.9889247G>A	GRCh37
NC_000004.10:g.9498345G>A	NCBI36
NG_011540.1:g.157626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264784.8:c.1235C>T MANE Select	ENSP00000264784.3:p.Pro412Leu
ENST00000264784.7:c.1235C>T	ENSP00000264784.3:p.Pro412Leu
ENST00000309065.7:c.1148C>T	ENSP00000311383.3:p.Pro383Leu
ENST00000503280.5:n.111+20612C>T
ENST00000503803.5:n.20C>T
ENST00000505104.5:n.1269C>T
ENST00000506583.5:c.1148C>T	ENSP00000422209.1:p.Pro383Leu
ENST00000512342.5:n.20C>T
NM_001001290.1:c.1148C>T	NP_001001290.1:p.Pro383Leu
NM_020041.2:c.1235C>T	NP_064425.2:p.Pro412Leu
XM_006713968.2:c.1235C>T	XP_006714031.1:p.Pro412Leu
XM_006713969.2:c.1148C>T	XP_006714032.1:p.Pro383Leu
XM_011513856.1:c.1235C>T	XP_011512158.1:p.Pro412Leu
XM_011513857.1:c.1148C>T	XP_011512159.1:p.Pro383Leu
XM_011513858.1:c.1148C>T	XP_011512160.1:p.Pro383Leu
XM_011513859.1:c.1235C>T	XP_011512161.1:p.Pro412Leu
XM_011513860.1:c.1235C>T	XP_011512162.1:p.Pro412Leu
XM_011513861.1:c.1235C>T	XP_011512163.1:p.Pro412Leu
XM_011513862.1:c.839C>T	XP_011512164.1:p.Pro280Leu
XM_011513863.1:c.839C>T	XP_011512165.1:p.Pro280Leu
XM_011513864.1:c.827C>T	XP_011512166.1:p.Pro276Leu
XM_011513865.1:c.1235C>T	XP_011512167.1:p.Pro412Leu
XM_011513866.1:c.1235C>T	XP_011512168.1:p.Pro412Leu
XM_011513867.1:c.677C>T	XP_011512169.1:p.Pro226Leu
XR_925341.1:n.1331C>T
XM_006713968.4:c.1235C>T	XP_006714031.1:p.Pro412Leu
XM_011513856.3:c.1235C>T	XP_011512158.1:p.Pro412Leu
XM_011513859.3:c.1235C>T	XP_011512161.1:p.Pro412Leu
XM_011513860.3:c.1235C>T	XP_011512162.1:p.Pro412Leu
XM_011513861.3:c.1235C>T	XP_011512163.1:p.Pro412Leu
XM_011513862.3:c.839C>T	XP_011512164.1:p.Pro280Leu
XM_011513864.2:c.827C>T	XP_011512166.1:p.Pro276Leu
XM_011513865.2:c.1235C>T	XP_011512167.1:p.Pro412Leu
XM_011513866.2:c.1235C>T	XP_011512168.1:p.Pro412Leu
XM_011513867.3:c.677C>T	XP_011512169.1:p.Pro226Leu
XM_017008457.2:c.1235C>T	XP_016863946.1:p.Pro412Leu
XM_017008458.2:c.1235C>T	XP_016863947.1:p.Pro412Leu
XM_017008459.1:c.773C>T	XP_016863948.1:p.Pro258Leu
XM_017008460.2:c.839C>T	XP_016863949.1:p.Pro280Leu
XM_024454150.1:c.1235C>T	XP_024309918.1:p.Pro412Leu
XM_024454151.1:c.848C>T	XP_024309919.1:p.Pro283Leu
XM_024454152.1:c.1235C>T	XP_024309920.1:p.Pro412Leu
XM_024454153.1:c.1235C>T	XP_024309921.1:p.Pro412Leu
XR_001741290.1:n.1286+20612C>T
XR_001741291.1:n.1286+20612C>T
XR_925341.3:n.1412C>T
NM_020041.3:c.1235C>T MANE Select	NP_064425.2:p.Pro412Leu
NM_001001290.2:c.1148C>T	NP_001001290.1:p.Pro383Leu