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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:
CA275709
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204111
ClinVar RCV Id:
RCV000186317
dbSNP Id:
rs180177236
gnomAD v4:
2-240873001-G-A
MyVariant Identifiers:
chr2:g.241812418G>A (hg19)
chr2:g.240873001G>A (hg38)
PubMed:
PMID:10862087
PMID:16971151
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240873001G>A , CM000664.2:g.240873001G>A
GRCh38
NC_000002.11:g.241812418G>A , CM000664.1:g.241812418G>A
GRCh37
NC_000002.10:g.241461091G>A
NCBI36
NG_008005.1:g.9257G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.547G>A
MANE Select
ENSP00000302620.3:p.Asp183Asn
ENST00000307503.3:c.547G>A
ENSP00000302620.3:p.Asp183Asn
ENST00000472436.1:n.567G>A
ENST00000476698.1:n.284G>A
NM_000030.2:c.547G>A
NP_000021.1:p.Asp183Asn
NM_000030.3:c.547G>A
MANE Select
NP_000021.1:p.Asp183Asn
Search 100 bp 5'
Search 100 bp 3'