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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:
CA384985814
Gene: KRT4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.53201480A>T (hg19)
chr12:g.52807696A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52807696A>T , CM000674.2:g.52807696A>T
GRCh38
NC_000012.11:g.53201480A>T , CM000674.1:g.53201480A>T
GRCh37
NC_000012.10:g.51487747A>T
NCBI36
NG_007380.1:g.11856T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000551956.2:c.1294T>A
MANE Select
ENSP00000448220.1:p.Leu432Met
ENST00000548097.5:c.*806T>A
ENSP00000449755.1:n.*806T>A
ENST00000551956.1:c.1294T>A
ENSP00000448220.1:p.Leu432Met
NM_002272.3:c.1294T>A
NP_002263.3:p.Leu432Met
NM_002272.4:c.1294T>A
MANE Select
NP_002263.3:p.Leu432Met
Search 100 bp 5'
Search 100 bp 3'