Canonical Allele Identifier: CA1015550512
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs2040601377
gnomAD v3: 20-13316086-C-T
gnomAD v4: 20-13316086-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316086C>T , CM000682.2:g.13316086C>T GRCh38
NC_000020.10:g.13296733C>T , CM000682.1:g.13296733C>T GRCh37
NC_000020.9:g.13244733C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937280.1:n.601-31G>A
XM_017027680.1:c.878-8980C>T (ISM1) XP_016883169.1:n.878-8980C>T
XR_001754319.2:n.1282-31G>A (TASP1)
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