Canonical Allele Identifier: CA312100271
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs577556201
gnomAD v3: 20-13316119-C-A
gnomAD v4: 20-13316119-C-A
MyVariant Identifiers: chr20:g.13296766C>A (hg19) chr20:g.13316119C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316119C>A , CM000682.2:g.13316119C>A GRCh38
NC_000020.10:g.13296766C>A , CM000682.1:g.13296766C>A GRCh37
NC_000020.9:g.13244766C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-64G>T
XM_017027680.1:c.878-8947C>A (ISM1) XP_016883169.1:n.878-8947C>A
XR_001754319.2:n.1282-64G>T (TASP1)
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