Canonical Allele Identifier: CA312100285

Gene: ISM1 TASP1

Linked Data

• dbSNP Id: rs185549950
• gnomAD v2: 20-13296902-A-G
• gnomAD v3: 20-13316255-A-G
• gnomAD v4: 20-13316255-A-G
• MyVariant Identifiers: chr20:g.13296902A>G (hg19) ; chr20:g.13316255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13316255A>G , CM000682.2:g.13316255A>G	GRCh38
NC_000020.10:g.13296902A>G , CM000682.1:g.13296902A>G	GRCh37
NC_000020.9:g.13244902A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937280.1:n.601-200T>C
XM_017027680.1:c.878-8811A>G (ISM1)	XP_016883169.1:n.878-8811A>G
XR_001754319.2:n.1282-200T>C (TASP1)