Canonical Allele Identifier: CA123437
Gene: PTH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13758
ClinVar RCV Id: RCV000014766
dbSNP Id: rs104894272

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492789A>G , CM000673.2:g.13492789A>G GRCh38
NC_000011.9:g.13514336A>G , CM000673.1:g.13514336A>G GRCh37
NC_000011.8:g.13470912A>G NCBI36
NG_008962.1:g.8232T>C

Transcript Alleles

HGVS Amino-acid change
NM_000315.2:c.67T>C VV
NM_000315.3:c.67T>C VV NP_000306.1:p.Ser23Pro
NM_001316352.1:c.163T>C VV NP_001303281.1:p.Ser55Pro
ENST00000282091.5:c.67T>C ENSP00000282091.1:p.Ser23Pro
ENST00000529816.1:c.67T>C ENSP00000433208.1:p.Ser23Pro