Canonical Allele Identifier: CA312100291

Gene: ISM1 TASP1

Linked Data

• dbSNP Id: rs781297599
• gnomAD v3: 20-13316275-T-C
• gnomAD v4: 20-13316275-T-C
• MyVariant Identifiers: chr20:g.13296922T>C (hg19) ; chr20:g.13316275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13316275T>C , CM000682.2:g.13316275T>C	GRCh38
NC_000020.10:g.13296922T>C , CM000682.1:g.13296922T>C	GRCh37
NC_000020.9:g.13244922T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937280.1:n.601-220A>G
XM_017027680.1:c.878-8791T>C (ISM1)	XP_016883169.1:n.878-8791T>C
XR_001754319.2:n.1282-220A>G (TASP1)