Canonical Allele Identifier: CA7245963
Gene: SLC10A1 HGNC NCBI
ClinVar RCV:
RCV000596418
RCV001358773
RCV001358774
ClinVar Variation:
501461
dbSNP:
2296651
gnomAD v2:
14:70245193 G / A
gnomAD v3:
14:69778476 G / A
gnomAD v4:
chr14-69778476-G-A
Joint Max Group AF 0.04424872 (EAS)
Genomes Max Group AF 0.06421295 (EAS)
Exomes Max Group AF 0.04104457 (EAS)
MyVariant.info:
GRCh38 chr14:g.69778476G>A
GRCh37 chr14:g.70245193G>A
Revel Score:
ENST00000216540 (MANE Select) 0.293
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.69778476G>A , CM000676.2:g.69778476G>A GRCh38
NC_000014.8:g.70245193G>A , CM000676.1:g.70245193G>A GRCh37
NC_000014.7:g.69314946G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216540.5:c.800C>T MANE Select ENSP00000216540.4:p.Ser267Phe
ENST00000216540.4:c.800C>T ENSP00000216540.4:p.Ser267Phe
NM_003049.3:c.800C>T NP_003040.1:p.Ser267Phe
NM_003049.4:c.800C>T MANE Select NP_003040.1:p.Ser267Phe
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