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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:
CA371109457
Gene: THAP1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.42698185T>G (hg19)
chr8:g.42843042T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.42843042T>G , CM000670.2:g.42843042T>G
GRCh38
NC_000008.10:g.42698185T>G , CM000670.1:g.42698185T>G
GRCh37
NC_000008.9:g.42817342T>G
NCBI36
NG_011837.1:g.5290A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000254250.7:c.53A>C
MANE Select
ENSP00000254250.3:p.Lys18Thr
ENST00000345117.2:c.53A>C
ENSP00000344966.2:p.Lys18Thr
ENST00000529779.1:c.53A>C
ENSP00000433912.1:p.Lys18Thr
NM_018105.2:c.53A>C
NP_060575.1:p.Lys18Thr
NM_199003.1:c.53A>C
NP_945354.1:p.Lys18Thr
NM_018105.3:c.53A>C
MANE Select
NP_060575.1:p.Lys18Thr
NM_199003.2:c.53A>C
NP_945354.1:p.Lys18Thr
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