Canonical Allele Identifier: CA2817478331
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259366A>C , CM000683.2:g.22259366A>C GRCh38
NC_000021.8:g.23631686A>C , CM000683.1:g.23631686A>C GRCh37
NC_000021.7:g.22553557A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46553A>C