Canonical Allele Identifier: CA412575817

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22219086-A-T
• MyVariant Identifiers: chrX:g.22237203A>T (hg19) ; chrX:g.22219086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219086A>T , CM000685.2:g.22219086A>T	GRCh38
NC_000023.10:g.22237203A>T , CM000685.1:g.22237203A>T	GRCh37
NC_000023.9:g.22147124A>T	NCBI36
NG_007563.2:g.191283A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.305A>T (PHEX)	ENSP00000508003.1:p.His102Leu
ENST00000683162.1:c.305A>T (PHEX)	ENSP00000508059.1:p.His102Leu
ENST00000683289.1:c.305A>T (PHEX)	ENSP00000508195.1:p.His102Leu
ENST00000683917.1:n.535A>T (PHEX)
ENST00000684356.1:c.305A>T (PHEX)	ENSP00000507619.1:p.His102Leu
ENST00000684745.1:n.1425A>T (PHEX)
ENST00000379374.5:c.1751A>T (PHEX) MANE Select	ENSP00000368682.4:p.His584Leu
ENST00000379374.4:c.1751A>T (PHEX)	ENSP00000368682.4:p.His584Leu
NM_000444.5:c.1751A>T (PHEX)	NP_000435.3:p.His584Leu
NM_001282754.1:c.1751A>T (PHEX)	NP_001269683.1:p.His584Leu
XM_011545533.1:c.995A>T (PHEX)	XP_011543835.1:p.His332Leu
XM_011545534.1:c.995A>T (PHEX)	XP_011543836.1:p.His332Leu
XM_011545536.1:c.644A>T (PHEX)	XP_011543838.1:p.His215Leu
NR_073010.2:n.1048+8384T>A (PTCHD1-AS)
XM_011545536.2:c.644A>T (PHEX)	XP_011543838.1:p.His215Leu
XM_017029579.1:c.995A>T (PHEX)	XP_016885068.1:p.His332Leu
XM_024452390.1:c.1460A>T (PHEX)	XP_024308158.1:p.His487Leu
XR_001755695.1:n.2591A>T (PHEX)
NM_000444.6:c.1751A>T (PHEX) MANE Select	NP_000435.3:p.His584Leu
NM_001282754.2:c.1751A>T (PHEX)	NP_001269683.1:p.His584Leu