Canonical Allele Identifier: CA337397147
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs17174592
gnomAD v3: Y-19499381-C-G
gnomAD v4: Y-19499381-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19499381C>G , CM000686.2:g.19499381C>G GRCh38
NC_000024.9:g.21661267C>G , CM000686.1:g.21661267C>G GRCh37
NC_000024.8:g.20120655C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-19087G>C
ENST00000400605.5:n.105+3651G>C
ENST00000441139.5:n.122+3651G>C
NR_002923.2:n.122+3651G>C
NR_033732.1:n.122+3651G>C