Canonical Allele Identifier: CA2857152

Gene: SLC2A9

Linked Data

• dbSNP Id: rs770557412
• ExAC: 4:9982217 T / C
• gnomAD v2: 4-9982217-T-C
• gnomAD v3: 4-9980593-T-C
• gnomAD v4: 4-9980593-T-C
• MyVariant Identifiers: chr4:g.9982217T>C (hg19) ; chr4:g.9980593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9980593T>C , CM000666.2:g.9980593T>C	GRCh38
NC_000004.11:g.9982217T>C , CM000666.1:g.9982217T>C	GRCh37
NC_000004.10:g.9591315T>C	NCBI36
NG_011540.1:g.64656A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264784.8:c.680A>G MANE Select	ENSP00000264784.3:p.Lys227Arg
ENST00000264784.7:c.680A>G	ENSP00000264784.3:p.Lys227Arg
ENST00000309065.7:c.593A>G	ENSP00000311383.3:p.Lys198Arg
ENST00000505104.5:n.714A>G
ENST00000506583.5:c.593A>G	ENSP00000422209.1:p.Lys198Arg
ENST00000513129.1:c.593A>G	ENSP00000426800.1:p.Lys198Arg
NM_001001290.1:c.593A>G	NP_001001290.1:p.Lys198Arg
NM_020041.2:c.680A>G	NP_064425.2:p.Lys227Arg
XM_006713968.2:c.680A>G	XP_006714031.1:p.Lys227Arg
XM_006713969.2:c.593A>G	XP_006714032.1:p.Lys198Arg
XM_011513856.1:c.680A>G	XP_011512158.1:p.Lys227Arg
XM_011513857.1:c.593A>G	XP_011512159.1:p.Lys198Arg
XM_011513858.1:c.593A>G	XP_011512160.1:p.Lys198Arg
XM_011513859.1:c.680A>G	XP_011512161.1:p.Lys227Arg
XM_011513860.1:c.680A>G	XP_011512162.1:p.Lys227Arg
XM_011513861.1:c.680A>G	XP_011512163.1:p.Lys227Arg
XM_011513862.1:c.284A>G	XP_011512164.1:p.Lys95Arg
XM_011513863.1:c.284A>G	XP_011512165.1:p.Lys95Arg
XM_011513864.1:c.272A>G	XP_011512166.1:p.Lys91Arg
XM_011513865.1:c.680A>G	XP_011512167.1:p.Lys227Arg
XM_011513866.1:c.680A>G	XP_011512168.1:p.Lys227Arg
XM_011513867.1:c.122A>G	XP_011512169.1:p.Lys41Arg
XM_011513868.1:c.680A>G	XP_011512170.1:p.Lys227Arg
XR_925341.1:n.776A>G
XM_006713968.4:c.680A>G	XP_006714031.1:p.Lys227Arg
XM_011513856.3:c.680A>G	XP_011512158.1:p.Lys227Arg
XM_011513859.3:c.680A>G	XP_011512161.1:p.Lys227Arg
XM_011513860.3:c.680A>G	XP_011512162.1:p.Lys227Arg
XM_011513861.3:c.680A>G	XP_011512163.1:p.Lys227Arg
XM_011513862.3:c.284A>G	XP_011512164.1:p.Lys95Arg
XM_011513864.2:c.272A>G	XP_011512166.1:p.Lys91Arg
XM_011513865.2:c.680A>G	XP_011512167.1:p.Lys227Arg
XM_011513866.2:c.680A>G	XP_011512168.1:p.Lys227Arg
XM_011513867.3:c.122A>G	XP_011512169.1:p.Lys41Arg
XM_011513868.2:c.680A>G	XP_011512170.1:p.Lys227Arg
XM_017008457.2:c.680A>G	XP_016863946.1:p.Lys227Arg
XM_017008458.2:c.680A>G	XP_016863947.1:p.Lys227Arg
XM_017008459.1:c.218A>G	XP_016863948.1:p.Lys73Arg
XM_017008460.2:c.284A>G	XP_016863949.1:p.Lys95Arg
XM_024454150.1:c.680A>G	XP_024309918.1:p.Lys227Arg
XM_024454151.1:c.293A>G	XP_024309919.1:p.Lys98Arg
XM_024454152.1:c.680A>G	XP_024309920.1:p.Lys227Arg
XM_024454153.1:c.680A>G	XP_024309921.1:p.Lys227Arg
XR_001741290.1:n.853A>G
XR_001741291.1:n.853A>G
XR_925341.3:n.857A>G
NM_020041.3:c.680A>G MANE Select	NP_064425.2:p.Lys227Arg
NM_001001290.2:c.593A>G	NP_001001290.1:p.Lys198Arg