Canonical Allele Identifier: CA923741863
Gene: BCORP1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512492T>A , CM000686.2:g.19512492T>A GRCh38
NC_000024.9:g.21674378T>A , CM000686.1:g.21674378T>A GRCh37
NC_000024.8:g.20133766T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-32198A>T