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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:
CA341859499
Gene: ADAM30
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.120437789T>C (hg19)
chr1:g.119895166T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119895166T>C , CM000663.2:g.119895166T>C
GRCh38
NC_000001.10:g.120437789T>C , CM000663.1:g.120437789T>C
GRCh37
NC_000001.9:g.120239312T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000369400.2:c.1171A>G
MANE Select
ENSP00000358407.1:p.Asn391Asp
ENST00000369400.1:c.1171A>G
ENSP00000358407.1:p.Asn391Asp
NM_021794.3:c.1171A>G
NP_068566.2:p.Asn391Asp
NM_021794.4:c.1171A>G
MANE Select
NP_068566.2:p.Asn391Asp
Search 100 bp 5'
Search 100 bp 3'