Canonical Allele Identifier: CA2001193221
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113485014G>T , CM000673.2:g.113485014G>T GRCh38
NC_000011.9:g.113355736G>T , CM000673.1:g.113355736G>T GRCh37
NC_000011.8:g.112860946G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948024.2:n.378+5388C>A