Canonical Allele Identifier: CA923741860
Gene: BCORP1 HGNC NCBI

Linked Data

gnomAD v3: Y-19512465-C-T
gnomAD v4: Y-19512465-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512465C>T , CM000686.2:g.19512465C>T GRCh38
NC_000024.9:g.21674351C>T , CM000686.1:g.21674351C>T GRCh37
NC_000024.8:g.20133739C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-32171G>A