Canonical Allele Identifier: CA549570601
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs527928887
gnomAD v2: 4-10036474-C-G
gnomAD v3: 4-10034850-C-G
gnomAD v4: 4-10034850-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10034850C>G , CM000666.2:g.10034850C>G GRCh38
NC_000004.11:g.10036474C>G , CM000666.1:g.10036474C>G GRCh37
NC_000004.10:g.9645572C>G NCBI36
NG_011540.1:g.10399G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309065.7:c.-41+5280G>C ENSP00000311383.3:n.-41+5280G>C
ENST00000481042.1:n.1550G>C
ENST00000505104.5:n.81+5280G>C
ENST00000506583.5:c.-41+5280G>C ENSP00000422209.1:n.-41+5280G>C
ENST00000513129.1:c.-40-8844G>C ENSP00000426800.1:n.-40-8844G>C
NM_001001290.1:c.-41+5280G>C NP_001001290.1:n.-41+5280G>C
XM_006713969.2:c.-41+5280G>C XP_006714032.1:n.-41+5280G>C
XM_011513857.1:c.-41+5280G>C XP_011512159.1:n.-41+5280G>C
NM_001001290.2:c.-41+5280G>C NP_001001290.1:n.-41+5280G>C