Canonical Allele Identifier: CA10638580
Gene: PTH HGNC NCBI

Linked Data

ClinVar Variation Id: 303706
ClinVar RCV Id: RCV000390227
dbSNP Id: rs886048030
MyVariant Identifiers: chr11:g.13517535A>G (hg19) chr11:g.13495988A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13495988A>G , CM000673.2:g.13495988A>G GRCh38
NC_000011.9:g.13517535A>G , CM000673.1:g.13517535A>G GRCh37
NC_000011.8:g.13474111A>G NCBI36
NG_008962.1:g.5033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.-83T>C MANE Select ENSP00000282091.1:n.-83T>C
ENST00000282091.5:c.-83T>C ENSP00000282091.1:n.-83T>C
ENST00000529816.1:c.-6+54T>C ENSP00000433208.1:n.-6+54T>C
NM_000315.2:c.-83T>C NP_000306.1:n.-83T>C
NM_000315.3:c.-83T>C NP_000306.1:n.-83T>C
NM_001316352.1:c.91+54T>C NP_001303281.1:n.91+54T>C
NM_000315.4:c.-83T>C MANE Select NP_000306.1:n.-83T>C
NM_001316352.2:c.91+54T>C NP_001303281.1:n.91+54T>C
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