Canonical Allele Identifier: CA2002397773
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072586A= , CM000673.2:g.116072586A= GRCh38
NC_000011.9:g.115943304A= , CM000673.1:g.115943304A= GRCh37
NC_000011.8:g.115448514A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+428T=
XR_948056.1:n.311-5381T=
XR_948057.1:n.97+523T=
XR_001748401.1:n.192+428T=
XR_948055.2:n.192+428T=
XR_948056.2:n.314-5381T=
XR_948057.2:n.97+523T=