Canonical Allele Identifier: CA15298939
Gene: SLC2A9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.10034715A>G
GRCh37 chr4:g.10036339A>G
gnomAD v2:
4:10036339 A / G
gnomAD v3:
4:10034715 A / G
gnomAD v4:
chr4-10034715-A-G
Joint Max Group AF 0.56899246 (SAS)
Genomes Max Group AF 0.56899246 (SAS)
Exomes Max Group AF 0.38116169 (NFE)
dbSNP:
3733585
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10034715A>G , CM000666.2:g.10034715A>G GRCh38
NC_000004.11:g.10036339A>G , CM000666.1:g.10036339A>G GRCh37
NC_000004.10:g.9645437A>G NCBI36
NG_011540.1:g.10534T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309065.7:c.-41+5415T>C ENSP00000311383.3:n.-41+5415T>C
ENST00000481042.1:n.1685T>C
ENST00000505104.5:n.81+5415T>C
ENST00000506583.5:c.-41+5415T>C ENSP00000422209.1:n.-41+5415T>C
ENST00000513129.1:c.-40-8709T>C ENSP00000426800.1:n.-40-8709T>C
NM_001001290.1:c.-41+5415T>C NP_001001290.1:n.-41+5415T>C
XM_006713969.2:c.-41+5415T>C XP_006714032.1:n.-41+5415T>C
XM_011513857.1:c.-41+5415T>C XP_011512159.1:n.-41+5415T>C
NM_001001290.2:c.-41+5415T>C NP_001001290.1:n.-41+5415T>C
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