Canonical Allele Identifier: CA2231324539
Gene:

Genomic Alleles

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

Transcript Alleles

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