Canonical Allele Identifier: CA2135468286
Community Standard Title: NC_000014.9:g.48903598A=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.48903598A= , CM000676.2:g.48903598A= GRCh38
NC_000014.8:g.49372801A= , CM000676.1:g.49372801A= GRCh37
NC_000014.7:g.48442551A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001750756.1:n.504+94634T=