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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:
CA378581094
Gene: HTRA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.124249021C>G (hg19)
chr10:g.122489505C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122489505C>G , CM000672.2:g.122489505C>G
GRCh38
NC_000010.10:g.124249021C>G , CM000672.1:g.124249021C>G
GRCh37
NC_000010.9:g.124239011C>G
NCBI36
NG_011554.1:g.32981C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.656C>G
MANE Select
ENSP00000357980.3:p.Ala219Gly
ENST00000648167.1:c.338C>G
ENSP00000498033.1:p.Ala113Gly
ENST00000368984.7:c.656C>G
ENSP00000357980.3:p.Ala219Gly
NM_002775.4:c.656C>G
NP_002766.1:p.Ala219Gly
NM_002775.5:c.656C>G
MANE Select
NP_002766.1:p.Ala219Gly
Search 100 bp 5'
Search 100 bp 3'