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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:
CA384963355
Gene: KRT6A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.52886459T>A (hg19)
chr12:g.52492675T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52492675T>A , CM000674.2:g.52492675T>A
GRCh38
NC_000012.11:g.52886459T>A , CM000674.1:g.52886459T>A
GRCh37
NC_000012.10:g.51172726T>A
NCBI36
NG_008298.1:g.5723A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000330722.7:c.514A>T
MANE Select
ENSP00000369317.3:p.Asn172Tyr
ENST00000330722.6:c.514A>T
ENSP00000369317.3:p.Asn172Tyr
ENST00000549898.5:n.35A>T
NM_005554.3:c.514A>T
NP_005545.1:p.Asn172Tyr
NM_005554.4:c.514A>T
MANE Select
NP_005545.1:p.Asn172Tyr
Search 100 bp 5'
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