Canonical Allele Identifier: CA1223909946
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068696T= , CM000663.2:g.224068696T= GRCh38
NC_000001.10:g.224256398T= , CM000663.1:g.224256398T= GRCh37
NC_000001.9:g.222323021T= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+1042T=
XR_001737824.1:n.242+1042T=