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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:
CA116151
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3317
ClinVar RCV Id:
RCV000003481
dbSNP Id:
rs267606642
MyVariant Identifiers:
chr21:g.45706546T>G (hg19)
chr21:g.44286663T>G (hg38)
PubMed:
PMID:19807739
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.44286663T>G , CM000683.2:g.44286663T>G
GRCh38
NC_000021.8:g.45706546T>G , CM000683.1:g.45706546T>G
GRCh37
NC_000021.7:g.44530974T>G
NCBI36
NG_009556.1:g.5784T>G , LRG_18:g.5784T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000291582.6:c.239T>G
MANE Select
ENSP00000291582.5:p.Val80Gly
ENST00000291582.5:c.239T>G
ENSP00000291582.5:p.Val80Gly
ENST00000527919.5:n.400T>G
ENST00000530812.5:n.408T>G
NM_000383.3:c.239T>G
NP_000374.1:p.Val80Gly
XM_011529551.1:c.239T>G
XP_011527853.1:p.Val80Gly
NM_000383.4:c.239T>G
MANE Select
NP_000374.1:p.Val80Gly
Search 100 bp 5'
Search 100 bp 3'