Canonical Allele Identifier: CA312100288
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI
dbSNP:
1223271
gnomAD v2:
20:13296912 G / A
gnomAD v3:
20:13316265 G / A
gnomAD v4:
chr20-13316265-G-A
Joint Max Group AF 0.41558808 (EAS)
Genomes Max Group AF 0.41558808 (EAS)
MyVariant.info:
GRCh38 chr20:g.13316265G>A
GRCh37 chr20:g.13296912G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316265G>A , CM000682.2:g.13316265G>A GRCh38
NC_000020.10:g.13296912G>A , CM000682.1:g.13296912G>A GRCh37
NC_000020.9:g.13244912G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-210C>T
XM_017027680.1:c.878-8801G>A (ISM1) XP_016883169.1:n.878-8801G>A
XR_001754319.2:n.1282-210C>T (TASP1)
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