Canonical Allele Identifier: CA177986
Gene: SLC17A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 165240
ClinVar RCV Id: RCV000151878 RCV000839952
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)
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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
Search 100 bp 5'
Search 100 bp 3'