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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:
CA1953324333
Gene: PTH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13492598A= , CM000673.2:g.13492598A=
GRCh38
NC_000011.9:g.13514145A= , CM000673.1:g.13514145A=
GRCh37
NC_000011.8:g.13470721A=
NCBI36
NG_008962.1:g.8423T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000282091.6:c.155T=
MANE Select
ENSP00000282091.1:p.Val52=
ENST00000282091.5:c.155T=
ENSP00000282091.1:p.Val52=
ENST00000529816.1:c.155T=
ENSP00000433208.1:p.Val52=
NM_000315.2:c.155T=
NP_000306.1:p.Val52=
NM_000315.3:c.155T=
NP_000306.1:p.Val52=
NM_001316352.1:c.251T=
NP_001303281.1:p.Val84=
NM_000315.4:c.155T=
MANE Select
NP_000306.1:p.Val52=
NM_001316352.2:c.251T=
NP_001303281.1:p.Val84=
Search 100 bp 5'
Search 100 bp 3'