Canonical Allele Identifier: CA2359058

Gene: PTH1R

Linked Data

• ClinVar Variation Id: 345575
• ClinVar RCV Id: RCV000294042 ; RCV000348962 ; RCV000906244 ; RCV002278545
• dbSNP Id: rs200710310
• ExAC: 3:46925133 C / T
• gnomAD v2: 3-46925133-C-T
• gnomAD v3: 3-46883643-C-T
• gnomAD v4: 3-46883643-C-T
• MyVariant Identifiers: chr3:g.46925133C>T (hg19) ; chr3:g.46883643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46883643C>T , CM000665.2:g.46883643C>T	GRCh38
NC_000003.11:g.46925133C>T , CM000665.1:g.46925133C>T	GRCh37
NC_000003.10:g.46900137C>T	NCBI36
NG_007555.2:g.3527G>A , LRG_395:g.3527G>A
NG_008864.1:g.10898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449590.6:c.75+9C>T MANE Select	ENSP00000402723.1:n.75+9C>T
ENST00000313049.9:c.75+9C>T	ENSP00000321999.4:n.75+9C>T
ENST00000418619.5:c.75+9C>T	ENSP00000411424.1:n.75+9C>T
ENST00000427125.6:c.75+9C>T	ENSP00000400977.2:n.75+9C>T
ENST00000428220.1:c.75+9C>T	ENSP00000389811.1:n.75+9C>T
ENST00000430002.6:c.75+9C>T	ENSP00000413774.2:n.75+9C>T
ENST00000449590.5:c.75+9C>T	ENSP00000402723.1:n.75+9C>T
NM_000316.2:c.75+9C>T	NP_000307.1:n.75+9C>T
NM_001184744.1:c.75+9C>T	NP_001171673.1:n.75+9C>T
XM_011533967.1:c.75+9C>T	XP_011532269.1:n.75+9C>T
XM_011533968.1:c.57+2525C>T	XP_011532270.1:n.57+2525C>T
XM_011533967.3:c.75+9C>T	XP_011532269.1:n.75+9C>T
XM_011533968.2:c.57+2525C>T	XP_011532270.1:n.57+2525C>T
XM_017006932.2:c.75+9C>T	XP_016862421.1:n.75+9C>T
XM_017006933.1:c.75+9C>T	XP_016862422.1:n.75+9C>T
XM_017006934.1:c.75+9C>T	XP_016862423.1:n.75+9C>T
NM_000316.3:c.75+9C>T MANE Select	NP_000307.1:n.75+9C>T