Canonical Allele Identifier: CA92230374

Gene: SLC2A9

Linked Data

• dbSNP Id: rs1014224503
• gnomAD v2: 4-10036604-C-G
• gnomAD v3: 4-10034980-C-G
• gnomAD v4: 4-10034980-C-G
• MyVariant Identifiers: chr4:g.10036604C>G (hg19) ; chr4:g.10034980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.10034980C>G , CM000666.2:g.10034980C>G	GRCh38
NC_000004.11:g.10036604C>G , CM000666.1:g.10036604C>G	GRCh37
NC_000004.10:g.9645702C>G	NCBI36
NG_011540.1:g.10269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309065.7:c.-41+5150G>C	ENSP00000311383.3:n.-41+5150G>C
ENST00000481042.1:n.1420G>C
ENST00000505104.5:n.81+5150G>C
ENST00000506583.5:c.-41+5150G>C	ENSP00000422209.1:n.-41+5150G>C
ENST00000513129.1:c.-40-8974G>C	ENSP00000426800.1:n.-40-8974G>C
NM_001001290.1:c.-41+5150G>C	NP_001001290.1:n.-41+5150G>C
XM_006713969.2:c.-41+5150G>C	XP_006714032.1:n.-41+5150G>C
XM_011513857.1:c.-41+5150G>C	XP_011512159.1:n.-41+5150G>C
NM_001001290.2:c.-41+5150G>C	NP_001001290.1:n.-41+5150G>C