Canonical Allele Identifier: CA312100283

Linked Data

dbSNP Id: rs940924410

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316250C>G , CM000682.2:g.13316250C>G GRCh38
NC_000020.10:g.13296897C>G , CM000682.1:g.13296897C>G GRCh37
NC_000020.9:g.13244897C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-195G>C
XM_017027680.1:c.878-8816C>G (ISM1) XP_016883169.1:n.878-8816C>G
XR_001754319.2:n.1282-195G>C (TASP1)