Canonical Allele Identifier: CA923741875
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs2045086126
gnomAD v3: Y-19512548-G-C
gnomAD v4: Y-19512548-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512548G>C , CM000686.2:g.19512548G>C GRCh38
NC_000024.9:g.21674434G>C , CM000686.1:g.21674434G>C GRCh37
NC_000024.8:g.20133822G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-32254C>G