Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA805979221

Gene: SAP30L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1436716482

gnomAD v3: 5-154431889-T-C

gnomAD v4: 5-154431889-T-C

MyVariant Identifiers: chr5:g.153811449T>C (hg19) chr5:g.154431889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154431889T>C , CM000667.2:g.154431889T>C	GRCh38
NC_000005.9:g.153811449T>C , CM000667.1:g.153811449T>C	GRCh37
NC_000005.8:g.153791642T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_037897.1:n.204+11473A>G

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