Canonical Allele Identifier: CA923738717
Gene: BCORP1 HGNC NCBI

Linked Data

gnomAD v3: Y-19503567-C-G
gnomAD v4: Y-19503567-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19503567C>G , CM000686.2:g.19503567C>G GRCh38
NC_000024.9:g.21665453C>G , CM000686.1:g.21665453C>G GRCh37
NC_000024.8:g.20124841C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-23273G>C