Canonical Allele Identifier: CA6738683

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 452551
• ClinVar RCV Id: RCV000522096 ; RCV001114670
• dbSNP Id: rs773887574
• ExAC: 12:100774547 C / T
• gnomAD v2: 12-100774547-C-T
• gnomAD v3: 12-100380769-C-T
• gnomAD v4: 12-100380769-C-T
• MyVariant Identifiers: chr12:g.100774547C>T (hg19) ; chr12:g.100380769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100380769C>T , CM000674.2:g.100380769C>T	GRCh38
NC_000012.11:g.100774547C>T , CM000674.1:g.100774547C>T	GRCh37
NC_000012.10:g.99298678C>T	NCBI36
NG_021175.1:g.28691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.170C>T MANE Select	ENSP00000316909.4:p.Thr57Met
ENST00000323346.9:c.170C>T	ENSP00000316909.4:p.Thr57Met
ENST00000392989.3:c.170C>T	ENSP00000376715.3:p.Thr57Met
NM_001145288.1:c.170C>T	NP_001138760.1:p.Thr57Met
NM_139319.2:c.170C>T	NP_647480.1:p.Thr57Met
NM_001145288.2:c.170C>T	NP_001138760.1:p.Thr57Met
NM_139319.3:c.170C>T MANE Select	NP_647480.1:p.Thr57Met