Canonical Allele Identifier: CA312100284

Linked Data

dbSNP Id: rs749277165

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316254C>T , CM000682.2:g.13316254C>T GRCh38
NC_000020.10:g.13296901C>T , CM000682.1:g.13296901C>T GRCh37
NC_000020.9:g.13244901C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-199G>A
XM_017027680.1:c.878-8812C>T (ISM1) XP_016883169.1:n.878-8812C>T
XR_001754319.2:n.1282-199G>A (TASP1)