ClinGen Allele Registry
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Canonical Allele Identifier:
CA563649569
Gene: SAP30L-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1453093706
gnomAD v2:
5-153811561-G-A
gnomAD v3:
5-154432001-G-A
gnomAD v4:
5-154432001-G-A
MyVariant Identifiers:
chr5:g.153811561G>A (hg19)
chr5:g.154432001G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154432001G>A , CM000667.2:g.154432001G>A
GRCh38
NC_000005.9:g.153811561G>A , CM000667.1:g.153811561G>A
GRCh37
NC_000005.8:g.153791754G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037897.1:n.204+11361C>T
Search 100 bp 5'
Search 100 bp 3'