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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:
CA384928700
Gene: KRT5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.52913526C>A (hg19)
chr12:g.52519742C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52519742C>A , CM000674.2:g.52519742C>A
GRCh38
NC_000012.11:g.52913526C>A , CM000674.1:g.52913526C>A
GRCh37
NC_000012.10:g.51199793C>A
NCBI36
NG_008297.1:g.5718G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000252242.9:c.555G>T
MANE Select
ENSP00000252242.4:p.Lys185Asn
ENST00000252242.8:c.555G>T
ENSP00000252242.4:p.Lys185Asn
ENST00000549420.1:c.225G>T
ENSP00000447209.1:p.Lys75Asn
ENST00000552629.5:n.653G>T
NM_000424.3:c.555G>T
NP_000415.2:p.Lys185Asn
NM_000424.4:c.555G>T
MANE Select
NP_000415.2:p.Lys185Asn
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