Canonical Allele Identifier: CA2505422538
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237142C>A , CM000679.2:g.30237142C>A GRCh38
NC_000017.10:g.28564160C>A , CM000679.1:g.28564160C>A GRCh37
NC_000017.9:g.25588286C>A NCBI36
NG_011747.2:g.3795G>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+72C>A
XR_001752824.1:n.280+72C>A