Canonical Allele Identifier: CA123436
Gene: PTH HGNC NCBI

Linked Data

ClinVar Variation Id: 13756
ClinVar RCV Id: RCV000014764
dbSNP Id: rs104894271
MyVariant Identifiers: chr11:g.13514351A>G (hg19) chr11:g.13492804A>G (hg38)
PubMed: PMID:2212001 PMID:3005800 PMID:18056632
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492804A>G , CM000673.2:g.13492804A>G GRCh38
NC_000011.9:g.13514351A>G , CM000673.1:g.13514351A>G GRCh37
NC_000011.8:g.13470927A>G NCBI36
NG_008962.1:g.8217T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.52T>C MANE Select ENSP00000282091.1:p.Cys18Arg
ENST00000282091.5:c.52T>C ENSP00000282091.1:p.Cys18Arg
ENST00000529816.1:c.52T>C ENSP00000433208.1:p.Cys18Arg
NM_000315.2:c.52T>C NP_000306.1:p.Cys18Arg
NM_000315.3:c.52T>C NP_000306.1:p.Cys18Arg
NM_001316352.1:c.148T>C NP_001303281.1:p.Cys50Arg
NM_000315.4:c.52T>C MANE Select NP_000306.1:p.Cys18Arg
NM_001316352.2:c.148T>C NP_001303281.1:p.Cys50Arg
Search 100 bp 5'
Search 100 bp 3'