Canonical Allele Identifier: CA2255112011
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237320G= , CM000679.2:g.30237320G= GRCh38
NC_000017.10:g.28564338G= , CM000679.1:g.28564338G= GRCh37
NC_000017.9:g.25588464G= NCBI36
NG_011747.2:g.3617C=

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+250G=
XR_001752824.1:n.280+250G=