Canonical Allele Identifier: CA123422
Gene: PTH1R HGNC NCBI

Linked Data

ClinVar Variation Id: 13743
ClinVar RCV Id: RCV000014750
dbSNP Id: rs121434598
MyVariant Identifiers: chr3:g.46944032A>C (hg19) chr3:g.46902542A>C (hg38)
PubMed: PMID:10487664
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46902542A>C , CM000665.2:g.46902542A>C GRCh38
NC_000003.11:g.46944032A>C , CM000665.1:g.46944032A>C GRCh37
NC_000003.10:g.46919036A>C NCBI36
NG_008864.1:g.29797A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.1228A>C MANE Select ENSP00000402723.1:p.Thr410Pro
ENST00000313049.9:c.1228A>C ENSP00000321999.4:p.Thr410Pro
ENST00000418619.5:c.1228A>C ENSP00000411424.1:p.Thr410Pro
ENST00000427125.6:c.1228A>C ENSP00000400977.2:p.Thr410Pro
ENST00000428220.1:c.*165A>C ENSP00000389811.1:n.*165A>C
ENST00000430002.6:c.1228A>C ENSP00000413774.2:p.Thr410Pro
ENST00000449590.5:c.1228A>C ENSP00000402723.1:p.Thr410Pro
NM_000316.2:c.1228A>C NP_000307.1:p.Thr410Pro
NM_001184744.1:c.1228A>C NP_001171673.1:p.Thr410Pro
XM_005265344.2:c.1135A>C XP_005265401.1:p.Thr379Pro
XM_011533967.1:c.1267A>C XP_011532269.1:p.Thr423Pro
XM_011533968.1:c.1249A>C XP_011532270.1:p.Thr417Pro
XM_005265344.3:c.1135A>C XP_005265401.1:p.Thr379Pro
XM_011533967.3:c.1267A>C XP_011532269.1:p.Thr423Pro
XM_011533968.2:c.1249A>C XP_011532270.1:p.Thr417Pro
XM_017006932.2:c.1267A>C XP_016862421.1:p.Thr423Pro
XM_017006933.1:c.1228A>C XP_016862422.1:p.Thr410Pro
XM_017006934.1:c.1263A>C XP_016862423.1:p.Pro421=
NM_000316.3:c.1228A>C MANE Select NP_000307.1:p.Thr410Pro
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