Canonical Allele Identifier: CA2136398889
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856941G= , CM000676.2:g.50856941G= GRCh38
NC_000014.8:g.51323659G= , CM000676.1:g.51323659G= GRCh37
NC_000014.7:g.50393409G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1157C=
XR_943848.2:n.643+1157C=