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: CA416105966

Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11843824-C-A

MyVariant Identifiers: chr1:g.11903881C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843824C>A , CM000663.2:g.11843824C>A	GRCh38
NC_000001.10:g.11903881C>A , CM000663.1:g.11903881C>A	GRCh37
NC_000001.9:g.11826468C>A	NCBI36
NG_008766.1:g.42675C>A
NG_012926.1:g.8960G>T , LRG_751:g.8960G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1492C>A (CLCN6)	ENSP00000496938.1:n.*1492C>A
ENST00000446542.5:n.312C>A (NPPA-AS1)
NR_037806.1:n.1010C>A (NPPA-AS1)

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