Canonical Allele Identifier: CA142095

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 47882
• ClinVar RCV Id: RCV000041152 ; RCV000305950 ; RCV003964889 ; RCV002054804
• dbSNP Id: rs11110359
• ExAC: 12:100774548 G / A
• gnomAD v2: 12-100774548-G-A
• gnomAD v3: 12-100380770-G-A
• gnomAD v4: 12-100380770-G-A
• MyVariant Identifiers: chr12:g.100774548G>A (hg19) ; chr12:g.100380770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100380770G>A , CM000674.2:g.100380770G>A	GRCh38
NC_000012.11:g.100774548G>A , CM000674.1:g.100774548G>A	GRCh37
NC_000012.10:g.99298679G>A	NCBI36
NG_021175.1:g.28692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.171G>A MANE Select	ENSP00000316909.4:p.Thr57=
ENST00000323346.9:c.171G>A	ENSP00000316909.4:p.Thr57=
ENST00000392989.3:c.171G>A	ENSP00000376715.3:p.Thr57=
NM_001145288.1:c.171G>A	NP_001138760.1:p.Thr57=
NM_139319.2:c.171G>A	NP_647480.1:p.Thr57=
NM_001145288.2:c.171G>A	NP_001138760.1:p.Thr57=
NM_139319.3:c.171G>A MANE Select	NP_647480.1:p.Thr57=