Canonical Allele Identifier: CA337397254
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs111239917
gnomAD v3: Y-19503553-A-C
gnomAD v4: Y-19503553-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19503553A>C , CM000686.2:g.19503553A>C GRCh38
NC_000024.9:g.21665439A>C , CM000686.1:g.21665439A>C GRCh37
NC_000024.8:g.20124827A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-23259T>G