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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:
CA399184777
Gene: TAOK1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.27778571C>T (hg19)
chr17:g.29451553C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.29451553C>T , CM000679.2:g.29451553C>T
GRCh38
NC_000017.10:g.27778571C>T , CM000679.1:g.27778571C>T
GRCh37
NC_000017.9:g.24802697C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000261716.8:c.5C>T
MANE Select
ENSP00000261716.3:p.Pro2Leu
ENST00000261716.7:c.5C>T
ENSP00000261716.3:p.Pro2Leu
ENST00000536202.1:c.5C>T
ENSP00000438819.1:p.Pro2Leu
ENST00000583121.5:c.5C>T
ENSP00000464562.1:p.Pro2Leu
ENST00000587277.1:n.199C>T
NM_020791.2:c.5C>T
NP_065842.1:p.Pro2Leu
NM_025142.1:c.5C>T
NP_079418.1:p.Pro2Leu
XM_011525060.1:c.5C>T
XP_011523362.1:p.Pro2Leu
XM_011525060.2:c.5C>T
XP_011523362.1:p.Pro2Leu
NM_020791.4:c.5C>T
MANE Select
NP_065842.1:p.Pro2Leu
Search 100 bp 5'
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