Canonical Allele Identifier: CA2136398917
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857009A= , CM000676.2:g.50857009A= GRCh38
NC_000014.8:g.51323727A= , CM000676.1:g.51323727A= GRCh37
NC_000014.7:g.50393477A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1089T=
XR_943848.2:n.643+1089T=