Canonical Allele Identifier: CA2255112020
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237327C= , CM000679.2:g.30237327C= GRCh38
NC_000017.10:g.28564345C= , CM000679.1:g.28564345C= GRCh37
NC_000017.9:g.25588471C= NCBI36
NG_011747.2:g.3610G=

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+257C=
XR_001752824.1:n.280+257C=