Canonical Allele Identifier: CA1139248882
Gene: XGY1 HGNC NCBI

Linked Data

gnomAD v3: Y-12465449-T-C
gnomAD v4: Y-12465449-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12465449T>C , CM000686.2:g.12465449T>C GRCh38
NC_000024.9:g.14577249T>C , CM000686.1:g.14577249T>C GRCh37
NC_000024.8:g.13087257T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000381172.3:n.184+2994A>G