Canonical Allele Identifier: CA412575544

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266053T>G (hg19) ; chrX:g.22247936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247936T>G , CM000685.2:g.22247936T>G	GRCh38
NC_000023.10:g.22266053T>G , CM000685.1:g.22266053T>G	GRCh37
NC_000023.9:g.22175974T>G	NCBI36
NG_007563.2:g.220133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*171T>G (PHEX)	ENSP00000508059.1:n.*171T>G
ENST00000683289.1:c.624+20325T>G (PHEX)	ENSP00000508195.1:n.624+20325T>G
ENST00000683917.1:n.1017T>G (PHEX)
ENST00000684356.1:c.787T>G (PHEX)	ENSP00000507619.1:p.Ser263Ala
ENST00000684745.1:n.1907T>G (PHEX)
ENST00000379374.5:c.2233T>G (PHEX) MANE Select	ENSP00000368682.4:p.Ser745Ala
ENST00000379374.4:c.2233T>G (PHEX)	ENSP00000368682.4:p.Ser745Ala
NM_000444.5:c.2233T>G (PHEX)	NP_000435.3:p.Ser745Ala
NM_001282754.1:c.*68T>G (PHEX)	NP_001269683.1:n.*68T>G
XM_011545533.1:c.1477T>G (PHEX)	XP_011543835.1:p.Ser493Ala
XM_011545534.1:c.1477T>G (PHEX)	XP_011543836.1:p.Ser493Ala
XM_011545536.1:c.1126T>G (PHEX)	XP_011543838.1:p.Ser376Ala
XR_950533.1:n.140+6003A>C
XR_950534.1:n.127+6003A>C
NR_073010.2:n.850+6003A>C (PTCHD1-AS)
XM_011545536.2:c.1126T>G (PHEX)	XP_011543838.1:p.Ser376Ala
XM_017029579.1:c.1477T>G (PHEX)	XP_016885068.1:p.Ser493Ala
XM_024452390.1:c.1942T>G (PHEX)	XP_024308158.1:p.Ser648Ala
XR_001755695.1:n.3073T>G (PHEX)
NM_000444.6:c.2233T>G (PHEX) MANE Select	NP_000435.3:p.Ser745Ala
NM_001282754.2:c.*68T>G (PHEX)	NP_001269683.1:n.*68T>G