Canonical Allele Identifier: CA1580179120
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002927T= , CM000667.2:g.126002927T= GRCh38
NC_000005.9:g.125338620T= , CM000667.1:g.125338620T= GRCh37
NC_000005.8:g.125366519T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3413A=
XR_948738.1:n.497+5613A=