Canonical Allele Identifier: CA2789206623
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100101782C>A , CM000672.2:g.100101782C>A GRCh38
NC_000010.10:g.101861539C>A , CM000672.1:g.101861539C>A GRCh37
NC_000010.9:g.101851529C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946245.1:n.185+5545C>A