Canonical Allele Identifier: CA1223909950
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068707T= , CM000663.2:g.224068707T= GRCh38
NC_000001.10:g.224256409T= , CM000663.1:g.224256409T= GRCh37
NC_000001.9:g.222323032T= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+1053T=
XR_001737824.1:n.242+1053T=