Canonical Allele Identifier: CA923861476
Gene: BCORP1 HGNC NCBI

Linked Data

gnomAD v3: Y-19475996-G-A
gnomAD v4: Y-19475996-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19475996G>A , CM000686.2:g.19475996G>A GRCh38
NC_000024.9:g.21637882G>A , CM000686.1:g.21637882G>A GRCh37
NC_000024.8:g.20097270G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.238-1093C>T
ENST00000400605.5:n.232-1093C>T
ENST00000441139.5:n.249-1093C>T
ENST00000513194.1:n.3397-1098C>T
NR_002923.2:n.249-1093C>T
NR_033732.1:n.249-1093C>T