ClinGen Allele Registry
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Canonical Allele Identifier:
CA130069108
Gene: SAP30L-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs574963368
gnomAD v3:
5-154431932-A-G
gnomAD v4:
5-154431932-A-G
MyVariant Identifiers:
chr5:g.153811492A>G (hg19)
chr5:g.154431932A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154431932A>G , CM000667.2:g.154431932A>G
GRCh38
NC_000005.9:g.153811492A>G , CM000667.1:g.153811492A>G
GRCh37
NC_000005.8:g.153791685A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_037897.1:n.204+11430T>C
Search 100 bp 5'
Search 100 bp 3'