Canonical Allele Identifier: CA1580179126
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002940A= , CM000667.2:g.126002940A= GRCh38
NC_000005.9:g.125338633A= , CM000667.1:g.125338633A= GRCh37
NC_000005.8:g.125366532A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3400T=
XR_948738.1:n.497+5600T=