Canonical Allele Identifier: CA1354765536
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30438593C= , CM000665.2:g.30438593C= GRCh38
NC_000003.11:g.30480085C= , CM000665.1:g.30480085C= GRCh37
NC_000003.10:g.30455089C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001740627.1:n.802-30440C=
XR_001740628.1:n.850-30440C=
XR_940682.1:n.416+2414G=
XR_940683.1:n.328+2414G=
XR_940683.2:n.293+2414G=
XR_940686.1:n.1368-30440C=
XR_940687.1:n.1416-30440C=