Canonical Allele Identifier: CA2560133689
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169396C>A , CM000668.2:g.8169396C>A GRCh38
NC_000006.11:g.8169629C>A , CM000668.1:g.8169629C>A GRCh37
NC_000006.10:g.8114628C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11136C>A
XR_926441.1:n.189+1476C>A
XR_926442.1:n.82+11136C>A
XR_926443.1:n.82+11136C>A
XR_001743950.1:n.179+1476C>A
XR_926440.2:n.74+11136C>A
XR_926441.2:n.179+1476C>A
XR_926443.2:n.83+11136C>A