×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA374271279
Gene: GRIN3A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1829540857
MyVariant Identifiers:
chr9:g.104449004A>G (hg19)
chr9:g.101686722A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.101686722A>G , CM000671.2:g.101686722A>G
GRCh38
NC_000009.11:g.104449004A>G , CM000671.1:g.104449004A>G
GRCh37
NC_000009.10:g.103488825A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000361820.6:c.1178T>C
MANE Select
ENSP00000355155.3:p.Met393Thr
ENST00000361820.3:c.1178T>C
ENSP00000355155.3:p.Met393Thr
NM_133445.2:c.1178T>C
NP_597702.2:p.Met393Thr
XM_011518211.1:c.1178T>C
XP_011516513.1:p.Met393Thr
XM_011518212.1:c.1178T>C
XP_011516514.1:p.Met393Thr
XR_929711.1:n.1265T>C
XM_011518211.2:c.1178T>C
XP_011516513.1:p.Met393Thr
NM_133445.3:c.1178T>C
MANE Select
NP_597702.2:p.Met393Thr
Search 100 bp 5'
Search 100 bp 3'