ClinGen Allele Registry
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Canonical Allele Identifier:
CA1139264492
Gene: XGY1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2053316205
gnomAD v3:
Y-12500206-T-C
gnomAD v4:
Y-12500206-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12500206T>C , CM000686.2:g.12500206T>C
GRCh38
NC_000024.9:g.14612000T>C , CM000686.1:g.14612000T>C
GRCh37
NC_000024.8:g.13122008T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000381172.3:n.61+7103A>G
Search 100 bp 5'
Search 100 bp 3'