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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:
CA275726
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204120
ClinVar RCV Id:
RCV000186326
dbSNP Id:
rs180177250
MyVariant Identifiers:
chr2:g.241813427G>C (hg19)
chr2:g.240874010G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240874010G>C , CM000664.2:g.240874010G>C
GRCh38
NC_000002.11:g.241813427G>C , CM000664.1:g.241813427G>C
GRCh37
NC_000002.10:g.241462100G>C
NCBI36
NG_008005.1:g.10266G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.628G>C
MANE Select
ENSP00000302620.3:p.Ala210Pro
ENST00000307503.3:c.628G>C
ENSP00000302620.3:p.Ala210Pro
ENST00000476698.1:n.332+961G>C
NM_000030.2:c.628G>C
NP_000021.1:p.Ala210Pro
NM_000030.3:c.628G>C
MANE Select
NP_000021.1:p.Ala210Pro
Search 100 bp 5'
Search 100 bp 3'