Canonical Allele Identifier: CA16536207
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.13781600C>A , CM000679.2:g.13781600C>A GRCh38
NC_000017.10:g.13684917C>A , CM000679.1:g.13684917C>A GRCh37
NC_000017.9:g.13625642C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934240.1:n.375-3573G>T
XR_934241.1:n.375-4251G>T
XR_934242.1:n.188-4251G>T