Canonical Allele Identifier: CA2221608949
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50109045A= , CM000678.2:g.50109045A= GRCh38
NC_000016.9:g.50142956A= , CM000678.1:g.50142956A= GRCh37
NC_000016.8:g.48700457A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011523490.1:c.115-2393T= XP_011521792.1:n.115-2393T=