Canonical Allele Identifier: CA2801552279
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857015T>A , CM000676.2:g.50857015T>A GRCh38
NC_000014.8:g.51323733T>A , CM000676.1:g.51323733T>A GRCh37
NC_000014.7:g.50393483T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1083A>T
XR_943848.2:n.643+1083A>T