Canonical Allele Identifier: CA2769919726
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169379A>T , CM000668.2:g.8169379A>T GRCh38
NC_000006.11:g.8169612A>T , CM000668.1:g.8169612A>T GRCh37
NC_000006.10:g.8114611A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11119A>T
XR_926441.1:n.189+1459A>T
XR_926442.1:n.82+11119A>T
XR_926443.1:n.82+11119A>T
XR_001743950.1:n.179+1459A>T
XR_926440.2:n.74+11119A>T
XR_926441.2:n.179+1459A>T
XR_926443.2:n.83+11119A>T