Canonical Allele Identifier: CA92231418
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs950136003
gnomAD v2: 4-10042946-G-C
gnomAD v3: 4-10041322-G-C
gnomAD v4: 4-10041322-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10041322G>C , CM000666.2:g.10041322G>C GRCh38
NC_000004.11:g.10042946G>C , CM000666.1:g.10042946G>C GRCh37
NC_000004.10:g.9652044G>C NCBI36
NG_011540.1:g.3927C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000506583.5:c.-175-1058C>G ENSP00000422209.1:n.-175-1058C>G
ENST00000513129.1:c.-41+13511C>G ENSP00000426800.1:n.-41+13511C>G