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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:
CA351318083
Gene: AGXT
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.241814560T>G (hg19)
chr2:g.240875143T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240875143T>G , CM000664.2:g.240875143T>G
GRCh38
NC_000002.11:g.241814560T>G , CM000664.1:g.241814560T>G
GRCh37
NC_000002.10:g.241463233T>G
NCBI36
NG_008005.1:g.11399T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.715T>G
MANE Select
ENSP00000302620.3:p.Ser239Ala
ENST00000307503.3:c.715T>G
ENSP00000302620.3:p.Ser239Ala
ENST00000476698.1:n.367T>G
NM_000030.2:c.715T>G
NP_000021.1:p.Ser239Ala
NM_000030.3:c.715T>G
MANE Select
NP_000021.1:p.Ser239Ala
Search 100 bp 5'
Search 100 bp 3'