Canonical Allele Identifier: CA1557963465
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79550022C= , CM000667.2:g.79550022C= GRCh38
NC_000005.9:g.78845845C= , CM000667.1:g.78845845C= GRCh37
NC_000005.8:g.78881601C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2378C=
XR_948498.1:n.159+2185C=
XR_948499.1:n.67+1720C=
XR_948497.2:n.72+2378C=
XR_948498.2:n.159+2185C=
XR_948499.2:n.225+1720C=