Canonical Allele Identifier: CA2523951548
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237317A>G , CM000679.2:g.30237317A>G GRCh38
NC_000017.10:g.28564335A>G , CM000679.1:g.28564335A>G GRCh37
NC_000017.9:g.25588461A>G NCBI36
NG_011747.2:g.3620T>C

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+247A>G
XR_001752824.1:n.280+247A>G