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: CA18006869

Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs975360998

MyVariant Identifiers: chr1:g.11903900T>G (hg19) chr1:g.11843843T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843843T>G , CM000663.2:g.11843843T>G	GRCh38
NC_000001.10:g.11903900T>G , CM000663.1:g.11903900T>G	GRCh37
NC_000001.9:g.11826487T>G	NCBI36
NG_008766.1:g.42694T>G
NG_012926.1:g.8941A>C , LRG_751:g.8941A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1511T>G (CLCN6)	ENSP00000496938.1:n.*1511T>G
ENST00000446542.5:n.331T>G (NPPA-AS1)
NR_037806.1:n.1029T>G (NPPA-AS1)

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