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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA374271655
Gene: GRIN3A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.104449104G>T (hg19)
chr9:g.101686822G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.101686822G>T , CM000671.2:g.101686822G>T
GRCh38
NC_000009.11:g.104449104G>T , CM000671.1:g.104449104G>T
GRCh37
NC_000009.10:g.103488925G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000361820.6:c.1078C>A
MANE Select
ENSP00000355155.3:p.Gln360Lys
ENST00000361820.3:c.1078C>A
ENSP00000355155.3:p.Gln360Lys
NM_133445.2:c.1078C>A
NP_597702.2:p.Gln360Lys
XM_011518211.1:c.1078C>A
XP_011516513.1:p.Gln360Lys
XM_011518212.1:c.1078C>A
XP_011516514.1:p.Gln360Lys
XR_929711.1:n.1165C>A
XM_011518211.2:c.1078C>A
XP_011516513.1:p.Gln360Lys
NM_133445.3:c.1078C>A
MANE Select
NP_597702.2:p.Gln360Lys
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