Canonical Allele Identifier: CA5893204
Gene: PTH HGNC NCBI
COSMIC:
COSN8863288 (not active)
MyVariant.info:
GRCh38 chr11:g.13492716C>T
GRCh37 chr11:g.13514263C>T
gnomAD v2:
11:13514263 C / T
gnomAD v3:
11:13492716 C / T
gnomAD v4:
chr11-13492716-C-T
Joint Max Group AF 0.34761653 (NFE)
Genomes Max Group AF 0.34751221 (NFE)
Exomes Max Group AF 0.34742277 (NFE)
ClinVar RCV:
RCV001714777
ClinVar Variation:
1289830
dbSNP:
6254
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492716C>T , CM000673.2:g.13492716C>T GRCh38
NC_000011.9:g.13514263C>T , CM000673.1:g.13514263C>T GRCh37
NC_000011.8:g.13470839C>T NCBI36
NG_008962.1:g.8305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.87-50G>A MANE Select ENSP00000282091.1:n.87-50G>A
ENST00000282091.5:c.87-50G>A ENSP00000282091.1:n.87-50G>A
ENST00000529816.1:c.87-50G>A ENSP00000433208.1:n.87-50G>A
NM_000315.2:c.87-50G>A NP_000306.1:n.87-50G>A
NM_000315.3:c.87-50G>A NP_000306.1:n.87-50G>A
NM_001316352.1:c.183-50G>A NP_001303281.1:n.183-50G>A
NM_000315.4:c.87-50G>A MANE Select NP_000306.1:n.87-50G>A
NM_001316352.2:c.183-50G>A NP_001303281.1:n.183-50G>A
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