Canonical Allele Identifier: CA2359123

Gene: PTH1R

Linked Data

• ClinVar Variation Id: 345580
• ClinVar RCV Id: RCV001371142 ; RCV002278546 ; RCV002523261
• dbSNP Id: rs148414587
• ExAC: 3:46937272 G / C
• gnomAD v2: 3-46937272-G-C
• gnomAD v3: 3-46895782-G-C
• gnomAD v4: 3-46895782-G-C
• MyVariant Identifiers: chr3:g.46937272G>C (hg19) ; chr3:g.46895782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46895782G>C , CM000665.2:g.46895782G>C	GRCh38
NC_000003.11:g.46937272G>C , CM000665.1:g.46937272G>C	GRCh37
NC_000003.10:g.46912276G>C	NCBI36
NG_008864.1:g.23037G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.226G>C MANE Select	ENSP00000402723.1:p.Gly76Arg
ENST00000313049.9:c.226G>C	ENSP00000321999.4:p.Gly76Arg
ENST00000418619.5:c.226G>C	ENSP00000411424.1:p.Gly76Arg
ENST00000427125.6:c.226G>C	ENSP00000400977.2:p.Gly76Arg
ENST00000428220.1:c.226G>C	ENSP00000389811.1:p.Gly76Arg
ENST00000430002.6:c.226G>C	ENSP00000413774.2:p.Gly76Arg
ENST00000449590.5:c.226G>C	ENSP00000402723.1:p.Gly76Arg
ENST00000490109.1:n.246G>C
NM_000316.2:c.226G>C	NP_000307.1:p.Gly76Arg
NM_001184744.1:c.226G>C	NP_001171673.1:p.Gly76Arg
XM_005265344.2:c.133G>C	XP_005265401.1:p.Gly45Arg
XM_011533967.1:c.265G>C	XP_011532269.1:p.Gly89Arg
XM_011533968.1:c.247G>C	XP_011532270.1:p.Gly83Arg
XM_005265344.3:c.133G>C	XP_005265401.1:p.Gly45Arg
XM_011533967.3:c.265G>C	XP_011532269.1:p.Gly89Arg
XM_011533968.2:c.247G>C	XP_011532270.1:p.Gly83Arg
XM_017006932.2:c.265G>C	XP_016862421.1:p.Gly89Arg
XM_017006933.1:c.226G>C	XP_016862422.1:p.Gly76Arg
XM_017006934.1:c.265G>C	XP_016862423.1:p.Gly89Arg
NM_000316.3:c.226G>C MANE Select	NP_000307.1:p.Gly76Arg