Canonical Allele Identifier: CA2857254

Gene: SLC2A9 SLC2A9-AS1

Linked Data

• ClinVar Variation Id: 1897759
• ClinVar RCV Id: RCV002569848
• dbSNP Id: rs200013912
• ExAC: 4:9998412 G / T
• gnomAD v2: 4-9998412-G-T
• gnomAD v3: 4-9996788-G-T
• gnomAD v4: 4-9996788-G-T
• MyVariant Identifiers: chr4:g.9998412G>T (hg19) ; chr4:g.9996788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9996788G>T , CM000666.2:g.9996788G>T	GRCh38
NC_000004.11:g.9998412G>T , CM000666.1:g.9998412G>T	GRCh37
NC_000004.10:g.9607510G>T	NCBI36
NG_011540.1:g.48461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264784.8:c.403C>A (SLC2A9) MANE Select	ENSP00000264784.3:p.Leu135Ile
ENST00000264784.7:c.403C>A (SLC2A9)	ENSP00000264784.3:p.Leu135Ile
ENST00000309065.7:c.316C>A (SLC2A9)	ENSP00000311383.3:p.Leu106Ile
ENST00000505104.5:n.437C>A (SLC2A9)
ENST00000505506.1:n.255C>A (SLC2A9)
ENST00000506583.5:c.316C>A (SLC2A9)	ENSP00000422209.1:p.Leu106Ile
ENST00000506839.1:n.321-10995C>A (SLC2A9)
ENST00000513129.1:c.316C>A (SLC2A9)	ENSP00000426800.1:p.Leu106Ile
NM_001001290.1:c.316C>A (SLC2A9)	NP_001001290.1:p.Leu106Ile
NM_020041.2:c.403C>A (SLC2A9)	NP_064425.2:p.Leu135Ile
XM_006713968.2:c.403C>A (SLC2A9)	XP_006714031.1:p.Leu135Ile
XM_006713969.2:c.316C>A (SLC2A9)	XP_006714032.1:p.Leu106Ile
XM_011513856.1:c.403C>A (SLC2A9)	XP_011512158.1:p.Leu135Ile
XM_011513857.1:c.316C>A (SLC2A9)	XP_011512159.1:p.Leu106Ile
XM_011513858.1:c.316C>A (SLC2A9)	XP_011512160.1:p.Leu106Ile
XM_011513859.1:c.403C>A (SLC2A9)	XP_011512161.1:p.Leu135Ile
XM_011513860.1:c.403C>A (SLC2A9)	XP_011512162.1:p.Leu135Ile
XM_011513861.1:c.403C>A (SLC2A9)	XP_011512163.1:p.Leu135Ile
XM_011513862.1:c.15-10995C>A (SLC2A9)	XP_011512164.1:n.15-10995C>A
XM_011513863.1:c.15-10995C>A (SLC2A9)	XP_011512165.1:n.15-10995C>A
XM_011513865.1:c.403C>A (SLC2A9)	XP_011512167.1:p.Leu135Ile
XM_011513866.1:c.403C>A (SLC2A9)	XP_011512168.1:p.Leu135Ile
XM_011513868.1:c.403C>A (SLC2A9)	XP_011512170.1:p.Leu135Ile
XR_925341.1:n.499C>A (SLC2A9)
XR_925367.1:n.448+2263G>T (SLC2A9-AS1)
XM_006713968.4:c.403C>A (SLC2A9)	XP_006714031.1:p.Leu135Ile
XM_011513856.3:c.403C>A (SLC2A9)	XP_011512158.1:p.Leu135Ile
XM_011513859.3:c.403C>A (SLC2A9)	XP_011512161.1:p.Leu135Ile
XM_011513860.3:c.403C>A (SLC2A9)	XP_011512162.1:p.Leu135Ile
XM_011513861.3:c.403C>A (SLC2A9)	XP_011512163.1:p.Leu135Ile
XM_011513862.3:c.15-10995C>A (SLC2A9)	XP_011512164.1:n.15-10995C>A
XM_011513865.2:c.403C>A (SLC2A9)	XP_011512167.1:p.Leu135Ile
XM_011513866.2:c.403C>A (SLC2A9)	XP_011512168.1:p.Leu135Ile
XM_011513868.2:c.403C>A (SLC2A9)	XP_011512170.1:p.Leu135Ile
XM_017008457.2:c.403C>A (SLC2A9)	XP_016863946.1:p.Leu135Ile
XM_017008458.2:c.403C>A (SLC2A9)	XP_016863947.1:p.Leu135Ile
XM_017008460.2:c.15-10995C>A (SLC2A9)	XP_016863949.1:n.15-10995C>A
XM_024454150.1:c.403C>A (SLC2A9)	XP_024309918.1:p.Leu135Ile
XM_024454151.1:c.16C>A (SLC2A9)	XP_024309919.1:p.Leu6Ile
XM_024454152.1:c.403C>A (SLC2A9)	XP_024309920.1:p.Leu135Ile
XM_024454153.1:c.403C>A (SLC2A9)	XP_024309921.1:p.Leu135Ile
XR_001741290.1:n.576C>A (SLC2A9)
XR_001741291.1:n.576C>A (SLC2A9)
XR_001741589.1:n.595+2263G>T (SLC2A9-AS1)
XR_001741590.1:n.245+2263G>T (SLC2A9-AS1)
XR_001741591.1:n.245+2263G>T (SLC2A9-AS1)
XR_001741592.1:n.245+2263G>T (SLC2A9-AS1)
XR_925341.3:n.580C>A (SLC2A9)
NM_020041.3:c.403C>A (SLC2A9) MANE Select	NP_064425.2:p.Leu135Ile
NM_001001290.2:c.316C>A (SLC2A9)	NP_001001290.1:p.Leu106Ile