Canonical Allele Identifier: CA412573546

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22239757T>G (hg19) ; chrX:g.22221640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221640T>G , CM000685.2:g.22221640T>G	GRCh38
NC_000023.10:g.22239757T>G , CM000685.1:g.22239757T>G	GRCh37
NC_000023.9:g.22149678T>G	NCBI36
NG_007563.2:g.193837T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.350T>G (PHEX)	ENSP00000508003.1:p.Leu117Arg
ENST00000683162.1:c.350T>G (PHEX)	ENSP00000508059.1:p.Leu117Arg
ENST00000683289.1:c.350T>G (PHEX)	ENSP00000508195.1:p.Leu117Arg
ENST00000683917.1:n.580T>G (PHEX)
ENST00000684356.1:c.350T>G (PHEX)	ENSP00000507619.1:p.Leu117Arg
ENST00000684745.1:n.1470T>G (PHEX)
ENST00000379374.5:c.1796T>G (PHEX) MANE Select	ENSP00000368682.4:p.Leu599Arg
ENST00000379374.4:c.1796T>G (PHEX)	ENSP00000368682.4:p.Leu599Arg
NM_000444.5:c.1796T>G (PHEX)	NP_000435.3:p.Leu599Arg
NM_001282754.1:c.1796T>G (PHEX)	NP_001269683.1:p.Leu599Arg
XM_011545533.1:c.1040T>G (PHEX)	XP_011543835.1:p.Leu347Arg
XM_011545534.1:c.1040T>G (PHEX)	XP_011543836.1:p.Leu347Arg
XM_011545536.1:c.689T>G (PHEX)	XP_011543838.1:p.Leu230Arg
NR_073010.2:n.1048+5830A>C (PTCHD1-AS)
XM_011545536.2:c.689T>G (PHEX)	XP_011543838.1:p.Leu230Arg
XM_017029579.1:c.1040T>G (PHEX)	XP_016885068.1:p.Leu347Arg
XM_024452390.1:c.1505T>G (PHEX)	XP_024308158.1:p.Leu502Arg
XR_001755695.1:n.2636T>G (PHEX)
NM_000444.6:c.1796T>G (PHEX) MANE Select	NP_000435.3:p.Leu599Arg
NM_001282754.2:c.1796T>G (PHEX)	NP_001269683.1:p.Leu599Arg