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: CA595318366

Gene: CYP2C19 HGNC NCBI

Linked Data

dbSNP Id: rs1326016888

gnomAD v2: 10-96522419-GGAGTGCA-G

gnomAD v4: 10-94762662-GGAGTGCA-G

MyVariant Identifiers: chr10:g.96522420_96522426del (hg19) chr10:g.94762663_94762669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762663_94762669del , CM000672.2:g.94762663_94762669del	GRCh38
NC_000010.10:g.96522420_96522426del , CM000672.1:g.96522420_96522426del	GRCh37
NC_000010.9:g.96512410_96512416del	NCBI36
NG_008384.2:g.4958_4964del
NG_008384.3:g.4983_4989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371321.7:c.-43_-37del	ENSP00000360372.3:n.-43_-37del
ENST00000464755.1:c.932-12395_932-12389del	ENSP00000483243.1:n.932-12395_932-12389de...

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