Canonical Allele Identifier: CA2359294

Gene: PTH1R

Linked Data

• dbSNP Id: rs751763703
• ExAC: 3:46940183 A / T
• gnomAD v2: 3-46940183-A-T
• gnomAD v4: 3-46898693-A-T
• MyVariant Identifiers: chr3:g.46940183A>T (hg19) ; chr3:g.46898693A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898693A>T , CM000665.2:g.46898693A>T	GRCh38
NC_000003.11:g.46940183A>T , CM000665.1:g.46940183A>T	GRCh37
NC_000003.10:g.46915187A>T	NCBI36
NG_008864.1:g.25948A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.670A>T MANE Select	ENSP00000402723.1:p.Met224Leu
ENST00000313049.9:c.670A>T	ENSP00000321999.4:p.Met224Leu
ENST00000418619.5:c.670A>T	ENSP00000411424.1:p.Met224Leu
ENST00000427125.6:c.670A>T	ENSP00000400977.2:p.Met224Leu
ENST00000428220.1:c.670A>T	ENSP00000389811.1:p.Met224Leu
ENST00000430002.6:c.670A>T	ENSP00000413774.2:p.Met224Leu
ENST00000449590.5:c.670A>T	ENSP00000402723.1:p.Met224Leu
ENST00000490109.1:n.690A>T
NM_000316.2:c.670A>T	NP_000307.1:p.Met224Leu
NM_001184744.1:c.670A>T	NP_001171673.1:p.Met224Leu
XM_005265344.2:c.577A>T	XP_005265401.1:p.Met193Leu
XM_011533967.1:c.709A>T	XP_011532269.1:p.Met237Leu
XM_011533968.1:c.691A>T	XP_011532270.1:p.Met231Leu
XM_005265344.3:c.577A>T	XP_005265401.1:p.Met193Leu
XM_011533967.3:c.709A>T	XP_011532269.1:p.Met237Leu
XM_011533968.2:c.691A>T	XP_011532270.1:p.Met231Leu
XM_017006932.2:c.709A>T	XP_016862421.1:p.Met237Leu
XM_017006933.1:c.670A>T	XP_016862422.1:p.Met224Leu
XM_017006934.1:c.709A>T	XP_016862423.1:p.Met237Leu
NM_000316.3:c.670A>T MANE Select	NP_000307.1:p.Met224Leu