Canonical Allele Identifier: CA923857047
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs2045046883
gnomAD v3: Y-19466333-C-G
gnomAD v4: Y-19466333-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19466333C>G , CM000686.2:g.19466333C>G GRCh38
NC_000024.9:g.21628219C>G , CM000686.1:g.21628219C>G GRCh37
NC_000024.8:g.20087607C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.1660+123G>C
ENST00000400605.5:n.1654+123G>C
ENST00000441139.5:n.1671+123G>C
ENST00000513194.1:n.4579+111G>C
NR_002923.2:n.1671+123G>C
NR_033732.1:n.1671+123G>C