Canonical Allele Identifier: CA1139264506
Gene: XGY1 HGNC NCBI

Linked Data

gnomAD v3: Y-12500254-C-T
gnomAD v4: Y-12500254-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12500254C>T , CM000686.2:g.12500254C>T GRCh38
NC_000024.9:g.14612048C>T , CM000686.1:g.14612048C>T GRCh37
NC_000024.8:g.13122056C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000381172.3:n.61+7055G>A