ClinGen Allele Registry
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Canonical Allele Identifier:
CA15373771
Gene: SAP30L-AS1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.154431930A>G
GRCh37
chr5:g.153811490A>G
Linked Data - Sequence & Population
gnomAD v2:
5:153811490 A / G
gnomAD v3:
5:154431930 A / G
gnomAD v4:
chr5-154431930-A-G
Joint Max Group AF
0.23345258 (AFR)
Genomes Max Group AF
0.23345258 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10037670
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154431930A>G , CM000667.2:g.154431930A>G
GRCh38
NC_000005.9:g.153811490A>G , CM000667.1:g.153811490A>G
GRCh37
NC_000005.8:g.153791683A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037897.1:n.204+11432T>C
Search 100 bp 5'
Search 100 bp 3'