Canonical Allele Identifier: CA13475660
Gene: BET1L HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202856G>A , CM000673.2:g.202856G>A GRCh38
NC_000011.9:g.202856G>A , CM000673.1:g.202856G>A GRCh37
NC_000011.8:g.192856G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410108.5:c.168+2755C>T ENSP00000386558.1:n.168+2755C>T