Canonical Allele Identifier: CA1015550519
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs2040601552
gnomAD v3: 20-13316108-G-A
gnomAD v4: 20-13316108-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316108G>A , CM000682.2:g.13316108G>A GRCh38
NC_000020.10:g.13296755G>A , CM000682.1:g.13296755G>A GRCh37
NC_000020.9:g.13244755G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-53C>T
XM_017027680.1:c.878-8958G>A (ISM1) XP_016883169.1:n.878-8958G>A
XR_001754319.2:n.1282-53C>T (TASP1)
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