Canonical Allele Identifier: CA337396509
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs752168352
gnomAD v3: Y-19484691-A-C
gnomAD v4: Y-19484691-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19484691A>C , CM000686.2:g.19484691A>C GRCh38
NC_000024.9:g.21646577A>C , CM000686.1:g.21646577A>C GRCh37
NC_000024.8:g.20105965A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-4397T>G
ENST00000400605.5:n.106-4397T>G
ENST00000441139.5:n.123-4397T>G
ENST00000513194.1:n.194T>G
NR_002923.2:n.123-4397T>G
NR_033732.1:n.123-4397T>G