Canonical Allele Identifier: CA1015550516
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs2040601464
gnomAD v3: 20-13316099-T-C
gnomAD v4: 20-13316099-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316099T>C , CM000682.2:g.13316099T>C GRCh38
NC_000020.10:g.13296746T>C , CM000682.1:g.13296746T>C GRCh37
NC_000020.9:g.13244746T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937280.1:n.601-44A>G
XM_017027680.1:c.878-8967T>C (ISM1) XP_016883169.1:n.878-8967T>C
XR_001754319.2:n.1282-44A>G (TASP1)
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