Canonical Allele Identifier: CA352494368

Gene: PTH1R

Linked Data

• ClinVar Variation Id: 2097223
• ClinVar RCV Id: RCV003016585
• MyVariant Identifiers: chr3:g.46939411T>A (hg19) ; chr3:g.46897921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46897921T>A , CM000665.2:g.46897921T>A	GRCh38
NC_000003.11:g.46939411T>A , CM000665.1:g.46939411T>A	GRCh37
NC_000003.10:g.46914415T>A	NCBI36
NG_008864.1:g.25176T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449590.6:c.380T>A MANE Select	ENSP00000402723.1:p.Val127Glu
ENST00000313049.9:c.380T>A	ENSP00000321999.4:p.Val127Glu
ENST00000418619.5:c.380T>A	ENSP00000411424.1:p.Val127Glu
ENST00000427125.6:c.380T>A	ENSP00000400977.2:p.Val127Glu
ENST00000428220.1:c.380T>A	ENSP00000389811.1:p.Val127Glu
ENST00000430002.6:c.380T>A	ENSP00000413774.2:p.Val127Glu
ENST00000449590.5:c.380T>A	ENSP00000402723.1:p.Val127Glu
ENST00000490109.1:n.400T>A
NM_000316.2:c.380T>A	NP_000307.1:p.Val127Glu
NM_001184744.1:c.380T>A	NP_001171673.1:p.Val127Glu
XM_005265344.2:c.287T>A	XP_005265401.1:p.Val96Glu
XM_011533967.1:c.419T>A	XP_011532269.1:p.Val140Glu
XM_011533968.1:c.401T>A	XP_011532270.1:p.Val134Glu
XM_005265344.3:c.287T>A	XP_005265401.1:p.Val96Glu
XM_011533967.3:c.419T>A	XP_011532269.1:p.Val140Glu
XM_011533968.2:c.401T>A	XP_011532270.1:p.Val134Glu
XM_017006932.2:c.419T>A	XP_016862421.1:p.Val140Glu
XM_017006933.1:c.380T>A	XP_016862422.1:p.Val127Glu
XM_017006934.1:c.419T>A	XP_016862423.1:p.Val140Glu
NM_000316.3:c.380T>A MANE Select	NP_000307.1:p.Val127Glu