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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:
CA399475025
Gene: KRT14
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.39739385A>C (hg19)
chr17:g.41583133A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41583133A>C , CM000679.2:g.41583133A>C
GRCh38
NC_000017.10:g.39739385A>C , CM000679.1:g.39739385A>C
GRCh37
NC_000017.9:g.36992911A>C
NCBI36
NG_008624.1:g.8763T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.1282T>G
MANE Select
ENSP00000167586.6:p.Ser428Ala
ENST00000167586.6:c.1282T>G
ENSP00000167586.6:p.Ser428Ala
ENST00000441550.2:n.229T>G
NM_000526.4:c.1282T>G
NP_000517.2:p.Ser428Ala
NM_000526.5:c.1282T>G
MANE Select
NP_000517.3:p.Ser428Ala
Search 100 bp 5'
Search 100 bp 3'