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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:
CA402963957
Gene: GRIN3B
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.1004906C>A (hg19)
chr19:g.1004907C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1004907C>A , CM000681.2:g.1004907C>A
GRCh38
NC_000019.9:g.1004906C>A , CM000681.1:g.1004906C>A
GRCh37
NC_000019.8:g.955906C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000234389.3:c.1406C>A
MANE Select
ENSP00000234389.3:p.Pro469His
ENST00000588335.1:n.156C>A
NM_138690.1:c.1406C>A
NP_619635.1:p.Pro469His
NM_138690.2:c.1406C>A
NP_619635.1:p.Pro469His
XM_017026243.2:c.-173C>A
XP_016881732.1:n.-173C>A
NM_138690.3:c.1406C>A
MANE Select
NP_619635.1:p.Pro469His
Search 100 bp 5'
Search 100 bp 3'