Canonical Allele Identifier: CA10631830

Gene: SLC17A8

Linked Data

• ClinVar Variation Id: 306620
• ClinVar RCV Id: RCV000337331
• dbSNP Id: rs780354237
• gnomAD v2: 12-100751082-A-C
• gnomAD v3: 12-100357304-A-C
• gnomAD v4: 12-100357304-A-C
• MyVariant Identifiers: chr12:g.100751082A>C (hg19) ; chr12:g.100357304A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100357304A>C , CM000674.2:g.100357304A>C	GRCh38
NC_000012.11:g.100751082A>C , CM000674.1:g.100751082A>C	GRCh37
NC_000012.10:g.99275213A>C	NCBI36
NG_021175.1:g.5226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323346.10:c.-88A>C MANE Select	ENSP00000316909.4:n.-88A>C
ENST00000323346.9:c.-88A>C	ENSP00000316909.4:n.-88A>C
NM_001145288.1:c.-88A>C	NP_001138760.1:n.-88A>C
NM_139319.2:c.-88A>C	NP_647480.1:n.-88A>C
NM_001145288.2:c.-88A>C	NP_001138760.1:n.-88A>C
NM_139319.3:c.-88A>C MANE Select	NP_647480.1:n.-88A>C