Canonical Allele Identifier: CA7245980
Gene: SLC10A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501945
ClinVar RCV Id: RCV000594593 RCV001358772 RCV003392438
dbSNP Id: rs147226818
ExAC: 14:70245238 C / T
gnomAD v2: 14-70245238-C-T
gnomAD v3: 14-69778521-C-T
gnomAD v4: 14-69778521-C-T
MyVariant Identifiers: chr14:g.70245238C>T (hg19) chr14:g.69778521C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.69778521C>T , CM000676.2:g.69778521C>T GRCh38
NC_000014.8:g.70245238C>T , CM000676.1:g.70245238C>T GRCh37
NC_000014.7:g.69314991C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216540.5:c.755G>A MANE Select ENSP00000216540.4:p.Arg252His
ENST00000216540.4:c.755G>A ENSP00000216540.4:p.Arg252His
NM_003049.3:c.755G>A NP_003040.1:p.Arg252His
NM_003049.4:c.755G>A MANE Select NP_003040.1:p.Arg252His
Search 100 bp 5'
Search 100 bp 3'