Canonical Allele Identifier: CA2136398892
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856951A= , CM000676.2:g.50856951A= GRCh38
NC_000014.8:g.51323669A= , CM000676.1:g.51323669A= GRCh37
NC_000014.7:g.50393419A= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1147T=
XR_943848.2:n.643+1147T=