ClinGen Allele Registry
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Canonical Allele Identifier:
CA805979230
Gene: SAP30L-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1333666494
gnomAD v3:
5-154431933-T-C
gnomAD v4:
5-154431933-T-C
MyVariant Identifiers:
chr5:g.153811493T>C (hg19)
chr5:g.154431933T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154431933T>C , CM000667.2:g.154431933T>C
GRCh38
NC_000005.9:g.153811493T>C , CM000667.1:g.153811493T>C
GRCh37
NC_000005.8:g.153791686T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_037897.1:n.204+11429A>G
Search 100 bp 5'
Search 100 bp 3'