Canonical Allele Identifier: CA2563085356
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169404A>C , CM000668.2:g.8169404A>C GRCh38
NC_000006.11:g.8169637A>C , CM000668.1:g.8169637A>C GRCh37
NC_000006.10:g.8114636A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11144A>C
XR_926441.1:n.189+1484A>C
XR_926442.1:n.82+11144A>C
XR_926443.1:n.82+11144A>C
XR_001743950.1:n.179+1484A>C
XR_926440.2:n.74+11144A>C
XR_926441.2:n.179+1484A>C
XR_926443.2:n.83+11144A>C