Canonical Allele Identifier: CA2221132801
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108624C= , CM000678.2:g.49108624C= GRCh38
NC_000016.9:g.49142535C= , CM000678.1:g.49142535C= GRCh37
NC_000016.8:g.47700036C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1320G=
XR_001752138.2:n.591+5352G=
XR_933517.2:n.810+1320G=