Canonical Allele Identifier: CA337715125
Gene: XGY1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12487008C>T , CM000686.2:g.12487008C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000381172.3:n.97+1426G>A