Canonical Allele Identifier: CA312100269
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs1032861866
gnomAD v3: 20-13316090-T-C
gnomAD v4: 20-13316090-T-C
MyVariant Identifiers: chr20:g.13296737T>C (hg19) chr20:g.13316090T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316090T>C , CM000682.2:g.13316090T>C GRCh38
NC_000020.10:g.13296737T>C , CM000682.1:g.13296737T>C GRCh37
NC_000020.9:g.13244737T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-35A>G
XM_017027680.1:c.878-8976T>C (ISM1) XP_016883169.1:n.878-8976T>C
XR_001754319.2:n.1282-35A>G (TASP1)
Search 100 bp 5'
Search 100 bp 3'