Canonical Allele Identifier: CA337714899
Gene: XGY1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12465377G>A , CM000686.2:g.12465377G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000381172.3:n.184+3066C>T