Canonical Allele Identifier: CA337396151
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs112352309
gnomAD v3: Y-19475873-G-A
gnomAD v4: Y-19475873-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19475873G>A , CM000686.2:g.19475873G>A GRCh38
NC_000024.9:g.21637759G>A , CM000686.1:g.21637759G>A GRCh37
NC_000024.8:g.20097147G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.238-970C>T
ENST00000400605.5:n.232-970C>T
ENST00000441139.5:n.249-970C>T
ENST00000513194.1:n.3397-975C>T
NR_002923.2:n.249-970C>T
NR_033732.1:n.249-970C>T