Canonical Allele Identifier: CA2231324540
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71619734A>T , CM000678.2:g.71619734A>T GRCh38
NC_000016.9:g.71653637A>T , CM000678.1:g.71653637A>T GRCh37
NC_000016.8:g.70211138A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933717.1:n.95+1545T>A
XR_933717.2:n.103+1545T>A