Canonical Allele Identifier: CA2002397738
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072517T= , CM000673.2:g.116072517T= GRCh38
NC_000011.9:g.115943235T= , CM000673.1:g.115943235T= GRCh37
NC_000011.8:g.115448445T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+497A=
XR_948056.1:n.311-5312A=
XR_948057.1:n.97+592A=
XR_001748401.1:n.192+497A=
XR_948055.2:n.192+497A=
XR_948056.2:n.314-5312A=
XR_948057.2:n.97+592A=