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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:
CA399184746
Gene: TAOK1
HGNC
NCBI
Linked Data
gnomAD v4:
17-29451551-G-A
MyVariant Identifiers:
chr17:g.27778569G>A (hg19)
chr17:g.29451551G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.29451551G>A , CM000679.2:g.29451551G>A
GRCh38
NC_000017.10:g.27778569G>A , CM000679.1:g.27778569G>A
GRCh37
NC_000017.9:g.24802695G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000261716.8:c.3G>A
MANE Select
ENSP00000261716.3:p.Met1Ile
ENST00000261716.7:c.3G>A
ENSP00000261716.3:p.Met1Ile
ENST00000536202.1:c.3G>A
ENSP00000438819.1:p.Met1Ile
ENST00000583121.5:c.3G>A
ENSP00000464562.1:p.Met1Ile
ENST00000587277.1:n.197G>A
NM_020791.2:c.3G>A
NP_065842.1:p.Met1Ile
NM_025142.1:c.3G>A
NP_079418.1:p.Met1Ile
XM_011525060.1:c.3G>A
XP_011523362.1:p.Met1Ile
XM_011525060.2:c.3G>A
XP_011523362.1:p.Met1Ile
NM_020791.4:c.3G>A
MANE Select
NP_065842.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'