Canonical Allele Identifier: CA92230361
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs560917899
gnomAD v2: 4-10036533-G-A
gnomAD v3: 4-10034909-G-A
gnomAD v4: 4-10034909-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10034909G>A , CM000666.2:g.10034909G>A GRCh38
NC_000004.11:g.10036533G>A , CM000666.1:g.10036533G>A GRCh37
NC_000004.10:g.9645631G>A NCBI36
NG_011540.1:g.10340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309065.7:c.-41+5221C>T ENSP00000311383.3:n.-41+5221C>T
ENST00000481042.1:n.1491C>T
ENST00000505104.5:n.81+5221C>T
ENST00000506583.5:c.-41+5221C>T ENSP00000422209.1:n.-41+5221C>T
ENST00000513129.1:c.-40-8903C>T ENSP00000426800.1:n.-40-8903C>T
NM_001001290.1:c.-41+5221C>T NP_001001290.1:n.-41+5221C>T
XM_006713969.2:c.-41+5221C>T XP_006714032.1:n.-41+5221C>T
XM_011513857.1:c.-41+5221C>T XP_011512159.1:n.-41+5221C>T
NM_001001290.2:c.-41+5221C>T NP_001001290.1:n.-41+5221C>T