Canonical Allele Identifier: CA412575446

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266011T>C (hg19) ; chrX:g.22247894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247894T>C , CM000685.2:g.22247894T>C	GRCh38
NC_000023.10:g.22266011T>C , CM000685.1:g.22266011T>C	GRCh37
NC_000023.9:g.22175932T>C	NCBI36
NG_007563.2:g.220091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*129T>C (PHEX)	ENSP00000508059.1:n.*129T>C
ENST00000683289.1:c.624+20283T>C (PHEX)	ENSP00000508195.1:n.624+20283T>C
ENST00000683917.1:n.975T>C (PHEX)
ENST00000684356.1:c.745T>C (PHEX)	ENSP00000507619.1:p.Phe249Leu
ENST00000684745.1:n.1865T>C (PHEX)
ENST00000379374.5:c.2191T>C (PHEX) MANE Select	ENSP00000368682.4:p.Phe731Leu
ENST00000379374.4:c.2191T>C (PHEX)	ENSP00000368682.4:p.Phe731Leu
NM_000444.5:c.2191T>C (PHEX)	NP_000435.3:p.Phe731Leu
NM_001282754.1:c.*26T>C (PHEX)	NP_001269683.1:n.*26T>C
XM_011545533.1:c.1435T>C (PHEX)	XP_011543835.1:p.Phe479Leu
XM_011545534.1:c.1435T>C (PHEX)	XP_011543836.1:p.Phe479Leu
XM_011545536.1:c.1084T>C (PHEX)	XP_011543838.1:p.Phe362Leu
XR_950533.1:n.140+6045A>G
XR_950534.1:n.127+6045A>G
NR_073010.2:n.850+6045A>G (PTCHD1-AS)
XM_011545536.2:c.1084T>C (PHEX)	XP_011543838.1:p.Phe362Leu
XM_017029579.1:c.1435T>C (PHEX)	XP_016885068.1:p.Phe479Leu
XM_024452390.1:c.1900T>C (PHEX)	XP_024308158.1:p.Phe634Leu
XR_001755695.1:n.3031T>C (PHEX)
NM_000444.6:c.2191T>C (PHEX) MANE Select	NP_000435.3:p.Phe731Leu
NM_001282754.2:c.*26T>C (PHEX)	NP_001269683.1:n.*26T>C