Canonical Allele Identifier: CA549570604
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs1346996993
gnomAD v2: 4-10036524-A-G
gnomAD v3: 4-10034900-A-G
gnomAD v4: 4-10034900-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10034900A>G , CM000666.2:g.10034900A>G GRCh38
NC_000004.11:g.10036524A>G , CM000666.1:g.10036524A>G GRCh37
NC_000004.10:g.9645622A>G NCBI36
NG_011540.1:g.10349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309065.7:c.-41+5230T>C ENSP00000311383.3:n.-41+5230T>C
ENST00000481042.1:n.1500T>C
ENST00000505104.5:n.81+5230T>C
ENST00000506583.5:c.-41+5230T>C ENSP00000422209.1:n.-41+5230T>C
ENST00000513129.1:c.-40-8894T>C ENSP00000426800.1:n.-40-8894T>C
NM_001001290.1:c.-41+5230T>C NP_001001290.1:n.-41+5230T>C
XM_006713969.2:c.-41+5230T>C XP_006714032.1:n.-41+5230T>C
XM_011513857.1:c.-41+5230T>C XP_011512159.1:n.-41+5230T>C
NM_001001290.2:c.-41+5230T>C NP_001001290.1:n.-41+5230T>C