Canonical Allele Identifier: CA2351158814

Linked Data

dbSNP Id: rs2040602284

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316200G>A , CM000682.2:g.13316200G>A GRCh38
NC_000020.10:g.13296847G>A , CM000682.1:g.13296847G>A GRCh37
NC_000020.9:g.13244847G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937280.1:n.601-145C>T
XM_017027680.1:c.878-8866G>A (ISM1) XP_016883169.1:n.878-8866G>A
XR_001754319.2:n.1282-145C>T (TASP1)