Canonical Allele Identifier: CA312100281

Linked Data

dbSNP Id: rs1002433840

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316247G>A , CM000682.2:g.13316247G>A GRCh38
NC_000020.10:g.13296894G>A , CM000682.1:g.13296894G>A GRCh37
NC_000020.9:g.13244894G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-192C>T
XM_017027680.1:c.878-8819G>A (ISM1) XP_016883169.1:n.878-8819G>A
XR_001754319.2:n.1282-192C>T (TASP1)