Canonical Allele Identifier: CA2221132743
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108506C= , CM000678.2:g.49108506C= GRCh38
NC_000016.9:g.49142417C= , CM000678.1:g.49142417C= GRCh37
NC_000016.8:g.47699918C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1438G=
XR_001752138.2:n.591+5470G=
XR_933517.2:n.810+1438G=