Canonical Allele Identifier: CA2255112013
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237323G= , CM000679.2:g.30237323G= GRCh38
NC_000017.10:g.28564341G= , CM000679.1:g.28564341G= GRCh37
NC_000017.9:g.25588467G= NCBI36
NG_011747.2:g.3614C=

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+253G=
XR_001752824.1:n.280+253G=