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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:
CA343107035
Gene: TBX19
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.168262473C>G (hg19)
chr1:g.168293235C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168293235C>G , CM000663.2:g.168293235C>G
GRCh38
NC_000001.10:g.168262473C>G , CM000663.1:g.168262473C>G
GRCh37
NC_000001.9:g.166529097C>G
NCBI36
NG_008244.1:g.17196C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000367821.8:c.560C>G
MANE Select
ENSP00000356795.3:p.Pro187Arg
ENST00000367821.7:c.560C>G
ENSP00000356795.3:p.Pro187Arg
ENST00000431969.5:c.357C>G
NM_005149.2:c.560C>G
NP_005140.1:p.Pro187Arg
NM_005149.3:c.560C>G
MANE Select
NP_005140.1:p.Pro187Arg
Search 100 bp 5'
Search 100 bp 3'