Canonical Allele Identifier: CA312100279

Gene: ISM1 TASP1

Linked Data

• dbSNP Id: rs906792817
• gnomAD v2: 20-13296874-G-C
• gnomAD v3: 20-13316227-G-C
• gnomAD v4: 20-13316227-G-C
• MyVariant Identifiers: chr20:g.13296874G>C (hg19) ; chr20:g.13316227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13316227G>C , CM000682.2:g.13316227G>C	GRCh38
NC_000020.10:g.13296874G>C , CM000682.1:g.13296874G>C	GRCh37
NC_000020.9:g.13244874G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937280.1:n.601-172C>G
XM_017027680.1:c.878-8839G>C (ISM1)	XP_016883169.1:n.878-8839G>C
XR_001754319.2:n.1282-172C>G (TASP1)