Canonical Allele Identifier: CA312100280
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs193120023
gnomAD v2: 20-13296882-T-C
gnomAD v3: 20-13316235-T-C
gnomAD v4: 20-13316235-T-C
MyVariant Identifiers: chr20:g.13296882T>C (hg19) chr20:g.13316235T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316235T>C , CM000682.2:g.13316235T>C GRCh38
NC_000020.10:g.13296882T>C , CM000682.1:g.13296882T>C GRCh37
NC_000020.9:g.13244882T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-180A>G
XM_017027680.1:c.878-8831T>C (ISM1) XP_016883169.1:n.878-8831T>C
XR_001754319.2:n.1282-180A>G (TASP1)
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