Canonical Allele Identifier: CA6738623

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 306621
• ClinVar RCV Id: RCV000396555
• dbSNP Id: rs760431477
• ExAC: 12:100751138 T / G
• gnomAD v2: 12-100751138-T-G
• gnomAD v3: 12-100357360-T-G
• gnomAD v4: 12-100357360-T-G
• MyVariant Identifiers: chr12:g.100751138T>G (hg19) ; chr12:g.100357360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100357360T>G , CM000674.2:g.100357360T>G	GRCh38
NC_000012.11:g.100751138T>G , CM000674.1:g.100751138T>G	GRCh37
NC_000012.10:g.99275269T>G	NCBI36
NG_021175.1:g.5282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.-32T>G MANE Select	ENSP00000316909.4:n.-32T>G
ENST00000323346.9:c.-32T>G	ENSP00000316909.4:n.-32T>G
NM_001145288.1:c.-32T>G	NP_001138760.1:n.-32T>G
NM_139319.2:c.-32T>G	NP_647480.1:n.-32T>G
NM_001145288.2:c.-32T>G	NP_001138760.1:n.-32T>G
NM_139319.3:c.-32T>G MANE Select	NP_647480.1:n.-32T>G