Canonical Allele Identifier: CA2221132853
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108726C= , CM000678.2:g.49108726C= GRCh38
NC_000016.9:g.49142637C= , CM000678.1:g.49142637C= GRCh37
NC_000016.8:g.47700138C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1218G=
XR_001752138.2:n.591+5250G=
XR_933517.2:n.810+1218G=