Canonical Allele Identifier: CA2136398880
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856925C= , CM000676.2:g.50856925C= GRCh38
NC_000014.8:g.51323643C= , CM000676.1:g.51323643C= GRCh37
NC_000014.7:g.50393393C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1173G=
XR_943848.2:n.643+1173G=