×
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:
CA406697898
Gene: GRIN2D
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.48922907A>C (hg19)
chr19:g.48419650A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48419650A>C , CM000681.2:g.48419650A>C
GRCh38
NC_000019.9:g.48922907A>C , CM000681.1:g.48922907A>C
GRCh37
NC_000019.8:g.53614719A>C
NCBI36
NG_052829.1:g.29776A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000263269.4:c.1927A>C
MANE Select
ENSP00000263269.2:p.Asn643His
ENST00000263269.3:c.1927A>C
ENSP00000263269.2:p.Asn643His
NM_000836.2:c.1927A>C
NP_000827.2:p.Asn643His
XM_011526872.1:c.1927A>C
XP_011525174.1:p.Asn643His
NM_000836.4:c.1927A>C
MANE Select
NP_000827.2:p.Asn643His
Search 100 bp 5'
Search 100 bp 3'