Canonical Allele Identifier: CA123421
Gene: PTH1R HGNC NCBI

Linked Data

ClinVar Variation Id: 13742
ClinVar RCV Id: RCV000014749 RCV002247338
dbSNP Id: rs121434597
MyVariant Identifiers: chr3:g.46940181A>G (hg19) chr3:g.46898691A>G (hg38)
PubMed: PMID:7701349 PMID:8703170
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46898691A>G , CM000665.2:g.46898691A>G GRCh38
NC_000003.11:g.46940181A>G , CM000665.1:g.46940181A>G GRCh37
NC_000003.10:g.46915185A>G NCBI36
NG_008864.1:g.25946A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.668A>G MANE Select ENSP00000402723.1:p.His223Arg
ENST00000313049.9:c.668A>G ENSP00000321999.4:p.His223Arg
ENST00000418619.5:c.668A>G ENSP00000411424.1:p.His223Arg
ENST00000427125.6:c.668A>G ENSP00000400977.2:p.His223Arg
ENST00000428220.1:c.668A>G ENSP00000389811.1:p.His223Arg
ENST00000430002.6:c.668A>G ENSP00000413774.2:p.His223Arg
ENST00000449590.5:c.668A>G ENSP00000402723.1:p.His223Arg
ENST00000490109.1:n.688A>G
NM_000316.2:c.668A>G NP_000307.1:p.His223Arg
NM_001184744.1:c.668A>G NP_001171673.1:p.His223Arg
XM_005265344.2:c.575A>G XP_005265401.1:p.His192Arg
XM_011533967.1:c.707A>G XP_011532269.1:p.His236Arg
XM_011533968.1:c.689A>G XP_011532270.1:p.His230Arg
XM_005265344.3:c.575A>G XP_005265401.1:p.His192Arg
XM_011533967.3:c.707A>G XP_011532269.1:p.His236Arg
XM_011533968.2:c.689A>G XP_011532270.1:p.His230Arg
XM_017006932.2:c.707A>G XP_016862421.1:p.His236Arg
XM_017006933.1:c.668A>G XP_016862422.1:p.His223Arg
XM_017006934.1:c.707A>G XP_016862423.1:p.His236Arg
NM_000316.3:c.668A>G MANE Select NP_000307.1:p.His223Arg
Search 100 bp 5'
Search 100 bp 3'