ClinGen Allele Registry
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Canonical Allele Identifier:
CA1139264431
Gene: XGY1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2053316136
gnomAD v3:
Y-12500157-G-A
gnomAD v4:
Y-12500157-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12500157G>A , CM000686.2:g.12500157G>A
GRCh38
NC_000024.9:g.14611951G>A , CM000686.1:g.14611951G>A
GRCh37
NC_000024.8:g.13121959G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381172.3:n.61+7152C>T
Search 100 bp 5'
Search 100 bp 3'