Canonical Allele Identifier: CA177989

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 165243
• ClinVar RCV Id: RCV000151880
• dbSNP Id: rs150737570
• ExAC: 12:100787220 G / A
• gnomAD v2: 12-100787220-G-A
• gnomAD v3: 12-100393442-G-A
• gnomAD v4: 12-100393442-G-A
• MyVariant Identifiers: chr12:g.100787220G>A (hg19) ; chr12:g.100393442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100393442G>A , CM000674.2:g.100393442G>A	GRCh38
NC_000012.11:g.100787220G>A , CM000674.1:g.100787220G>A	GRCh37
NC_000012.10:g.99311351G>A	NCBI36
NG_021175.1:g.41364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.547G>A MANE Select	ENSP00000316909.4:p.Gly183Arg
ENST00000323346.9:c.547G>A	ENSP00000316909.4:p.Gly183Arg
ENST00000392989.3:c.547G>A	ENSP00000376715.3:p.Gly183Arg
NM_001145288.1:c.547G>A	NP_001138760.1:p.Gly183Arg
NM_139319.2:c.547G>A	NP_647480.1:p.Gly183Arg
NM_001145288.2:c.547G>A	NP_001138760.1:p.Gly183Arg
NM_139319.3:c.547G>A MANE Select	NP_647480.1:p.Gly183Arg