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: CA857768755

Gene: GRIN3A HGNC NCBI

Linked Data

dbSNP Id: rs1326999151

MyVariant Identifiers: chr9:g.104348069del (hg19) chr9:g.101585787del (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101585788del , CM000671.2:g.101585788del	GRCh38
NC_000009.11:g.104348070del , CM000671.1:g.104348070del	GRCh37
NC_000009.10:g.103387891del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361820.6:c.2767-6427del MANE Select	ENSP00000355155.3:n.2767-6427del
ENST00000361820.3:c.2767-6427del	ENSP00000355155.3:n.2767-6427del
NM_133445.2:c.2767-6427del	NP_597702.2:n.2767-6427del
NM_133445.3:c.2767-6427del MANE Select	NP_597702.2:n.2767-6427del

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