Canonical Allele Identifier: CA337714690
Gene: XGY1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12445052T>C , CM000686.2:g.12445052T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000381172.3:n.294-1752A>G