Canonical Allele Identifier: CA92230301

Gene: SLC2A9

Linked Data

• dbSNP Id: rs1012021499
• gnomAD v2: 4-10036274-T-G
• gnomAD v3: 4-10034650-T-G
• gnomAD v4: 4-10034650-T-G
• MyVariant Identifiers: chr4:g.10036274T>G (hg19) ; chr4:g.10034650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.10034650T>G , CM000666.2:g.10034650T>G	GRCh38
NC_000004.11:g.10036274T>G , CM000666.1:g.10036274T>G	GRCh37
NC_000004.10:g.9645372T>G	NCBI36
NG_011540.1:g.10599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309065.7:c.-41+5480A>C	ENSP00000311383.3:n.-41+5480A>C
ENST00000481042.1:n.1750A>C
ENST00000505104.5:n.81+5480A>C
ENST00000506583.5:c.-41+5480A>C	ENSP00000422209.1:n.-41+5480A>C
ENST00000513129.1:c.-40-8644A>C	ENSP00000426800.1:n.-40-8644A>C
NM_001001290.1:c.-41+5480A>C	NP_001001290.1:n.-41+5480A>C
XM_006713969.2:c.-41+5480A>C	XP_006714032.1:n.-41+5480A>C
XM_011513857.1:c.-41+5480A>C	XP_011512159.1:n.-41+5480A>C
NM_001001290.2:c.-41+5480A>C	NP_001001290.1:n.-41+5480A>C