Canonical Allele Identifier: CA412573597

Gene: PHEX PTCHD1-AS

Linked Data

• COSMIC: COSM4137821 ; COSM4137822
• MyVariant Identifiers: chrX:g.22239771T>C (hg19) ; chrX:g.22221654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221654T>C , CM000685.2:g.22221654T>C	GRCh38
NC_000023.10:g.22239771T>C , CM000685.1:g.22239771T>C	GRCh37
NC_000023.9:g.22149692T>C	NCBI36
NG_007563.2:g.193851T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.364T>C (PHEX)	ENSP00000508003.1:p.Ser122Pro
ENST00000683162.1:c.364T>C (PHEX)	ENSP00000508059.1:p.Ser122Pro
ENST00000683289.1:c.364T>C (PHEX)	ENSP00000508195.1:p.Ser122Pro
ENST00000683917.1:n.594T>C (PHEX)
ENST00000684356.1:c.364T>C (PHEX)	ENSP00000507619.1:p.Ser122Pro
ENST00000684745.1:n.1484T>C (PHEX)
ENST00000379374.5:c.1810T>C (PHEX) MANE Select	ENSP00000368682.4:p.Ser604Pro
ENST00000379374.4:c.1810T>C (PHEX)	ENSP00000368682.4:p.Ser604Pro
NM_000444.5:c.1810T>C (PHEX)	NP_000435.3:p.Ser604Pro
NM_001282754.1:c.1810T>C (PHEX)	NP_001269683.1:p.Ser604Pro
XM_011545533.1:c.1054T>C (PHEX)	XP_011543835.1:p.Ser352Pro
XM_011545534.1:c.1054T>C (PHEX)	XP_011543836.1:p.Ser352Pro
XM_011545536.1:c.703T>C (PHEX)	XP_011543838.1:p.Ser235Pro
NR_073010.2:n.1048+5816A>G (PTCHD1-AS)
XM_011545536.2:c.703T>C (PHEX)	XP_011543838.1:p.Ser235Pro
XM_017029579.1:c.1054T>C (PHEX)	XP_016885068.1:p.Ser352Pro
XM_024452390.1:c.1519T>C (PHEX)	XP_024308158.1:p.Ser507Pro
XR_001755695.1:n.2650T>C (PHEX)
NM_000444.6:c.1810T>C (PHEX) MANE Select	NP_000435.3:p.Ser604Pro
NM_001282754.2:c.1810T>C (PHEX)	NP_001269683.1:p.Ser604Pro