Canonical Allele Identifier: CA433471176

Gene: PTH1R

Linked Data

• dbSNP Id: rs1196884874
• gnomAD v2: 3-46940189-C-T
• MyVariant Identifiers: chr3:g.46940189C>T (hg19) ; chr3:g.46898699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898699C>T , CM000665.2:g.46898699C>T	GRCh38
NC_000003.11:g.46940189C>T , CM000665.1:g.46940189C>T	GRCh37
NC_000003.10:g.46915193C>T	NCBI36
NG_008864.1:g.25954C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.676C>T MANE Select	ENSP00000402723.1:p.Leu226=
ENST00000313049.9:c.676C>T	ENSP00000321999.4:p.Leu226=
ENST00000418619.5:c.676C>T	ENSP00000411424.1:p.Leu226=
ENST00000427125.6:c.676C>T	ENSP00000400977.2:p.Leu226=
ENST00000428220.1:c.676C>T	ENSP00000389811.1:p.Leu226=
ENST00000430002.6:c.676C>T	ENSP00000413774.2:p.Leu226=
ENST00000449590.5:c.676C>T	ENSP00000402723.1:p.Leu226=
ENST00000490109.1:n.696C>T
NM_000316.2:c.676C>T	NP_000307.1:p.Leu226=
NM_001184744.1:c.676C>T	NP_001171673.1:p.Leu226=
XM_005265344.2:c.583C>T	XP_005265401.1:p.Leu195=
XM_011533967.1:c.715C>T	XP_011532269.1:p.Leu239=
XM_011533968.1:c.697C>T	XP_011532270.1:p.Leu233=
XM_005265344.3:c.583C>T	XP_005265401.1:p.Leu195=
XM_011533967.3:c.715C>T	XP_011532269.1:p.Leu239=
XM_011533968.2:c.697C>T	XP_011532270.1:p.Leu233=
XM_017006932.2:c.715C>T	XP_016862421.1:p.Leu239=
XM_017006933.1:c.676C>T	XP_016862422.1:p.Leu226=
XM_017006934.1:c.715C>T	XP_016862423.1:p.Leu239=
NM_000316.3:c.676C>T MANE Select	NP_000307.1:p.Leu226=