Canonical Allele Identifier: CA2739834306
Gene: PTH1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46898593A>T , CM000665.2:g.46898593A>T GRCh38
NC_000003.11:g.46940083A>T , CM000665.1:g.46940083A>T GRCh37
NC_000003.10:g.46915087A>T NCBI36
NG_008864.1:g.25848A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.639-69A>T MANE Select ENSP00000402723.1:n.639-69A>T
ENST00000313049.9:c.639-69A>T ENSP00000321999.4:n.639-69A>T
ENST00000418619.5:c.639-69A>T ENSP00000411424.1:n.639-69A>T
ENST00000427125.6:c.639-69A>T ENSP00000400977.2:n.639-69A>T
ENST00000428220.1:c.639-69A>T ENSP00000389811.1:n.639-69A>T
ENST00000430002.6:c.639-69A>T ENSP00000413774.2:n.639-69A>T
ENST00000449590.5:c.639-69A>T ENSP00000402723.1:n.639-69A>T
ENST00000490109.1:n.659-69A>T
NM_000316.2:c.639-69A>T NP_000307.1:n.639-69A>T
NM_001184744.1:c.639-69A>T NP_001171673.1:n.639-69A>T
XM_005265344.2:c.546-69A>T XP_005265401.1:n.546-69A>T
XM_011533967.1:c.678-69A>T XP_011532269.1:n.678-69A>T
XM_011533968.1:c.660-69A>T XP_011532270.1:n.660-69A>T
XM_005265344.3:c.546-69A>T XP_005265401.1:n.546-69A>T
XM_011533967.3:c.678-69A>T XP_011532269.1:n.678-69A>T
XM_011533968.2:c.660-69A>T XP_011532270.1:n.660-69A>T
XM_017006932.2:c.678-69A>T XP_016862421.1:n.678-69A>T
XM_017006933.1:c.639-69A>T XP_016862422.1:n.639-69A>T
XM_017006934.1:c.678-69A>T XP_016862423.1:n.678-69A>T
NM_000316.3:c.639-69A>T MANE Select NP_000307.1:n.639-69A>T