Canonical Allele Identifier: CA741342931
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs1200481330
gnomAD v3: 20-13316100-G-T
gnomAD v4: 20-13316100-G-T
MyVariant Identifiers: chr20:g.13296747G>T (hg19) chr20:g.13316100G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316100G>T , CM000682.2:g.13316100G>T GRCh38
NC_000020.10:g.13296747G>T , CM000682.1:g.13296747G>T GRCh37
NC_000020.9:g.13244747G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-45C>A
XM_017027680.1:c.878-8966G>T (ISM1) XP_016883169.1:n.878-8966G>T
XR_001754319.2:n.1282-45C>A (TASP1)
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