Canonical Allele Identifier: CA352496291

Gene: PTH1R

Linked Data

• dbSNP Id: rs2031920667
• gnomAD v3: 3-46898697-A-G
• gnomAD v4: 3-46898697-A-G
• MyVariant Identifiers: chr3:g.46940187A>G (hg19) ; chr3:g.46898697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898697A>G , CM000665.2:g.46898697A>G	GRCh38
NC_000003.11:g.46940187A>G , CM000665.1:g.46940187A>G	GRCh37
NC_000003.10:g.46915191A>G	NCBI36
NG_008864.1:g.25952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.674A>G MANE Select	ENSP00000402723.1:p.His225Arg
ENST00000313049.9:c.674A>G	ENSP00000321999.4:p.His225Arg
ENST00000418619.5:c.674A>G	ENSP00000411424.1:p.His225Arg
ENST00000427125.6:c.674A>G	ENSP00000400977.2:p.His225Arg
ENST00000428220.1:c.674A>G	ENSP00000389811.1:p.His225Arg
ENST00000430002.6:c.674A>G	ENSP00000413774.2:p.His225Arg
ENST00000449590.5:c.674A>G	ENSP00000402723.1:p.His225Arg
ENST00000490109.1:n.694A>G
NM_000316.2:c.674A>G	NP_000307.1:p.His225Arg
NM_001184744.1:c.674A>G	NP_001171673.1:p.His225Arg
XM_005265344.2:c.581A>G	XP_005265401.1:p.His194Arg
XM_011533967.1:c.713A>G	XP_011532269.1:p.His238Arg
XM_011533968.1:c.695A>G	XP_011532270.1:p.His232Arg
XM_005265344.3:c.581A>G	XP_005265401.1:p.His194Arg
XM_011533967.3:c.713A>G	XP_011532269.1:p.His238Arg
XM_011533968.2:c.695A>G	XP_011532270.1:p.His232Arg
XM_017006932.2:c.713A>G	XP_016862421.1:p.His238Arg
XM_017006933.1:c.674A>G	XP_016862422.1:p.His225Arg
XM_017006934.1:c.713A>G	XP_016862423.1:p.His238Arg
NM_000316.3:c.674A>G MANE Select	NP_000307.1:p.His225Arg