Canonical Allele Identifier: CA412573442

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22239736A>G (hg19) ; chrX:g.22221619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221619A>G , CM000685.2:g.22221619A>G	GRCh38
NC_000023.10:g.22239736A>G , CM000685.1:g.22239736A>G	GRCh37
NC_000023.9:g.22149657A>G	NCBI36
NG_007563.2:g.193816A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.329A>G (PHEX)	ENSP00000508003.1:p.Lys110Arg
ENST00000683162.1:c.329A>G (PHEX)	ENSP00000508059.1:p.Lys110Arg
ENST00000683289.1:c.329A>G (PHEX)	ENSP00000508195.1:p.Lys110Arg
ENST00000683917.1:n.559A>G (PHEX)
ENST00000684356.1:c.329A>G (PHEX)	ENSP00000507619.1:p.Lys110Arg
ENST00000684745.1:n.1449A>G (PHEX)
ENST00000379374.5:c.1775A>G (PHEX) MANE Select	ENSP00000368682.4:p.Lys592Arg
ENST00000379374.4:c.1775A>G (PHEX)	ENSP00000368682.4:p.Lys592Arg
NM_000444.5:c.1775A>G (PHEX)	NP_000435.3:p.Lys592Arg
NM_001282754.1:c.1775A>G (PHEX)	NP_001269683.1:p.Lys592Arg
XM_011545533.1:c.1019A>G (PHEX)	XP_011543835.1:p.Lys340Arg
XM_011545534.1:c.1019A>G (PHEX)	XP_011543836.1:p.Lys340Arg
XM_011545536.1:c.668A>G (PHEX)	XP_011543838.1:p.Lys223Arg
NR_073010.2:n.1048+5851T>C (PTCHD1-AS)
XM_011545536.2:c.668A>G (PHEX)	XP_011543838.1:p.Lys223Arg
XM_017029579.1:c.1019A>G (PHEX)	XP_016885068.1:p.Lys340Arg
XM_024452390.1:c.1484A>G (PHEX)	XP_024308158.1:p.Lys495Arg
XR_001755695.1:n.2615A>G (PHEX)
NM_000444.6:c.1775A>G (PHEX) MANE Select	NP_000435.3:p.Lys592Arg
NM_001282754.2:c.1775A>G (PHEX)	NP_001269683.1:p.Lys592Arg