Canonical Allele Identifier: CA2221132742
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108505A= , CM000678.2:g.49108505A= GRCh38
NC_000016.9:g.49142416A= , CM000678.1:g.49142416A= GRCh37
NC_000016.8:g.47699917A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1439T=
XR_001752138.2:n.591+5471T=
XR_933517.2:n.810+1439T=