Canonical Allele Identifier: CA2739834311
Gene: PTH1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46898597A>C , CM000665.2:g.46898597A>C GRCh38
NC_000003.11:g.46940087A>C , CM000665.1:g.46940087A>C GRCh37
NC_000003.10:g.46915091A>C NCBI36
NG_008864.1:g.25852A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.639-65A>C MANE Select ENSP00000402723.1:n.639-65A>C
ENST00000313049.9:c.639-65A>C ENSP00000321999.4:n.639-65A>C
ENST00000418619.5:c.639-65A>C ENSP00000411424.1:n.639-65A>C
ENST00000427125.6:c.639-65A>C ENSP00000400977.2:n.639-65A>C
ENST00000428220.1:c.639-65A>C ENSP00000389811.1:n.639-65A>C
ENST00000430002.6:c.639-65A>C ENSP00000413774.2:n.639-65A>C
ENST00000449590.5:c.639-65A>C ENSP00000402723.1:n.639-65A>C
ENST00000490109.1:n.659-65A>C
NM_000316.2:c.639-65A>C NP_000307.1:n.639-65A>C
NM_001184744.1:c.639-65A>C NP_001171673.1:n.639-65A>C
XM_005265344.2:c.546-65A>C XP_005265401.1:n.546-65A>C
XM_011533967.1:c.678-65A>C XP_011532269.1:n.678-65A>C
XM_011533968.1:c.660-65A>C XP_011532270.1:n.660-65A>C
XM_005265344.3:c.546-65A>C XP_005265401.1:n.546-65A>C
XM_011533967.3:c.678-65A>C XP_011532269.1:n.678-65A>C
XM_011533968.2:c.660-65A>C XP_011532270.1:n.660-65A>C
XM_017006932.2:c.678-65A>C XP_016862421.1:n.678-65A>C
XM_017006933.1:c.639-65A>C XP_016862422.1:n.639-65A>C
XM_017006934.1:c.678-65A>C XP_016862423.1:n.678-65A>C
NM_000316.3:c.639-65A>C MANE Select NP_000307.1:n.639-65A>C