Canonical Allele Identifier: CA177986

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 165240
• ClinVar RCV Id: RCV000151878 ; RCV000839952 ; RCV004019825
• dbSNP Id: rs373954823
• ExAC: 12:100774687 G / A
• gnomAD v2: 12-100774687-G-A
• gnomAD v3: 12-100380909-G-A
• gnomAD v4: 12-100380909-G-A
• MyVariant Identifiers: chr12:g.100774687G>A (hg19) ; chr12:g.100380909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100380909G>A , CM000674.2:g.100380909G>A	GRCh38
NC_000012.11:g.100774687G>A , CM000674.1:g.100774687G>A	GRCh37
NC_000012.10:g.99298818G>A	NCBI36
NG_021175.1:g.28831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.310G>A MANE Select	ENSP00000316909.4:p.Val104Ile
ENST00000323346.9:c.310G>A	ENSP00000316909.4:p.Val104Ile
ENST00000392989.3:c.310G>A	ENSP00000376715.3:p.Val104Ile
NM_001145288.1:c.310G>A	NP_001138760.1:p.Val104Ile
NM_139319.2:c.310G>A	NP_647480.1:p.Val104Ile
NM_001145288.2:c.310G>A	NP_001138760.1:p.Val104Ile
NM_139319.3:c.310G>A MANE Select	NP_647480.1:p.Val104Ile