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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:
CA8562738
Gene: KRT14
HGNC
NCBI
Linked Data
dbSNP Id:
rs769668914
ExAC:
17:39742747 T / G
gnomAD v2:
17-39742747-T-G
gnomAD v4:
17-41586495-T-G
MyVariant Identifiers:
chr17:g.39742747T>G (hg19)
chr17:g.41586495T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586495T>G , CM000679.2:g.41586495T>G
GRCh38
NC_000017.10:g.39742747T>G , CM000679.1:g.39742747T>G
GRCh37
NC_000017.9:g.36996273T>G
NCBI36
NG_008624.1:g.5401A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.340A>C
MANE Select
ENSP00000167586.6:p.Ser114Arg
ENST00000167586.6:c.340A>C
ENSP00000167586.6:p.Ser114Arg
NM_000526.4:c.340A>C
NP_000517.2:p.Ser114Arg
NM_000526.5:c.340A>C
MANE Select
NP_000517.3:p.Ser114Arg
Search 100 bp 5'
Search 100 bp 3'