Canonical Allele Identifier: CA433471111

Gene: PTH1R

Linked Data

• dbSNP Id: rs1575522002
• gnomAD v4: 3-46898692-C-T
• MyVariant Identifiers: chr3:g.46940182C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898692C>T , CM000665.2:g.46898692C>T	GRCh38
NC_000003.11:g.46940182C>T , CM000665.1:g.46940182C>T	GRCh37
NC_000003.10:g.46915186C>T	NCBI36
NG_008864.1:g.25947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.669C>T MANE Select	ENSP00000402723.1:p.His223=
ENST00000313049.9:c.669C>T	ENSP00000321999.4:p.His223=
ENST00000418619.5:c.669C>T	ENSP00000411424.1:p.His223=
ENST00000427125.6:c.669C>T	ENSP00000400977.2:p.His223=
ENST00000428220.1:c.669C>T	ENSP00000389811.1:p.His223=
ENST00000430002.6:c.669C>T	ENSP00000413774.2:p.His223=
ENST00000449590.5:c.669C>T	ENSP00000402723.1:p.His223=
ENST00000490109.1:n.689C>T
NM_000316.2:c.669C>T	NP_000307.1:p.His223=
NM_001184744.1:c.669C>T	NP_001171673.1:p.His223=
XM_005265344.2:c.576C>T	XP_005265401.1:p.His192=
XM_011533967.1:c.708C>T	XP_011532269.1:p.His236=
XM_011533968.1:c.690C>T	XP_011532270.1:p.His230=
XM_005265344.3:c.576C>T	XP_005265401.1:p.His192=
XM_011533967.3:c.708C>T	XP_011532269.1:p.His236=
XM_011533968.2:c.690C>T	XP_011532270.1:p.His230=
XM_017006932.2:c.708C>T	XP_016862421.1:p.His236=
XM_017006933.1:c.669C>T	XP_016862422.1:p.His223=
XM_017006934.1:c.708C>T	XP_016862423.1:p.His236=
NM_000316.3:c.669C>T MANE Select	NP_000307.1:p.His223=