Canonical Allele Identifier: CA2359170

Gene: PTH1R

Linked Data

• dbSNP Id: rs771830426
• ExAC: 3:46939524 G / A
• gnomAD v2: 3-46939524-G-A
• gnomAD v3: 3-46898034-G-A
• gnomAD v4: 3-46898034-G-A
• MyVariant Identifiers: chr3:g.46939524G>A (hg19) ; chr3:g.46898034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898034G>A , CM000665.2:g.46898034G>A	GRCh38
NC_000003.11:g.46939524G>A , CM000665.1:g.46939524G>A	GRCh37
NC_000003.10:g.46914528G>A	NCBI36
NG_008864.1:g.25289G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.425-40G>A MANE Select	ENSP00000402723.1:n.425-40G>A
ENST00000313049.9:c.425-40G>A	ENSP00000321999.4:n.425-40G>A
ENST00000418619.5:c.425-40G>A	ENSP00000411424.1:n.425-40G>A
ENST00000427125.6:c.425-40G>A	ENSP00000400977.2:n.425-40G>A
ENST00000428220.1:c.425-40G>A	ENSP00000389811.1:n.425-40G>A
ENST00000430002.6:c.425-40G>A	ENSP00000413774.2:n.425-40G>A
ENST00000449590.5:c.425-40G>A	ENSP00000402723.1:n.425-40G>A
ENST00000490109.1:n.445-40G>A
NM_000316.2:c.425-40G>A	NP_000307.1:n.425-40G>A
NM_001184744.1:c.425-40G>A	NP_001171673.1:n.425-40G>A
XM_005265344.2:c.332-40G>A	XP_005265401.1:n.332-40G>A
XM_011533967.1:c.464-40G>A	XP_011532269.1:n.464-40G>A
XM_011533968.1:c.446-40G>A	XP_011532270.1:n.446-40G>A
XM_005265344.3:c.332-40G>A	XP_005265401.1:n.332-40G>A
XM_011533967.3:c.464-40G>A	XP_011532269.1:n.464-40G>A
XM_011533968.2:c.446-40G>A	XP_011532270.1:n.446-40G>A
XM_017006932.2:c.464-40G>A	XP_016862421.1:n.464-40G>A
XM_017006933.1:c.425-40G>A	XP_016862422.1:n.425-40G>A
XM_017006934.1:c.464-40G>A	XP_016862423.1:n.464-40G>A
NM_000316.3:c.425-40G>A MANE Select	NP_000307.1:n.425-40G>A