Canonical Allele Identifier: CA412574257

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22244621T>G (hg19) ; chrX:g.22226504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226504T>G , CM000685.2:g.22226504T>G	GRCh38
NC_000023.10:g.22244621T>G , CM000685.1:g.22244621T>G	GRCh37
NC_000023.9:g.22154542T>G	NCBI36
NG_007563.2:g.198701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.515T>G (PHEX)	ENSP00000508003.1:p.Phe172Cys
ENST00000683162.1:c.515T>G (PHEX)	ENSP00000508059.1:p.Phe172Cys
ENST00000683289.1:c.515T>G (PHEX)	ENSP00000508195.1:p.Phe172Cys
ENST00000683917.1:n.745T>G (PHEX)
ENST00000684356.1:c.515T>G (PHEX)	ENSP00000507619.1:p.Phe172Cys
ENST00000684745.1:n.1635T>G (PHEX)
ENST00000379374.5:c.1961T>G (PHEX) MANE Select	ENSP00000368682.4:p.Phe654Cys
ENST00000379374.4:c.1961T>G (PHEX)	ENSP00000368682.4:p.Phe654Cys
NM_000444.5:c.1961T>G (PHEX)	NP_000435.3:p.Phe654Cys
NM_001282754.1:c.1961T>G (PHEX)	NP_001269683.1:p.Phe654Cys
XM_011545533.1:c.1205T>G (PHEX)	XP_011543835.1:p.Phe402Cys
XM_011545534.1:c.1205T>G (PHEX)	XP_011543836.1:p.Phe402Cys
XM_011545536.1:c.854T>G (PHEX)	XP_011543838.1:p.Phe285Cys
XR_950534.1:n.326-481A>C
NR_073010.2:n.1048+966A>C (PTCHD1-AS)
XM_011545536.2:c.854T>G (PHEX)	XP_011543838.1:p.Phe285Cys
XM_017029579.1:c.1205T>G (PHEX)	XP_016885068.1:p.Phe402Cys
XM_024452390.1:c.1670T>G (PHEX)	XP_024308158.1:p.Phe557Cys
XR_001755695.1:n.2801T>G (PHEX)
NM_000444.6:c.1961T>G (PHEX) MANE Select	NP_000435.3:p.Phe654Cys
NM_001282754.2:c.1961T>G (PHEX)	NP_001269683.1:p.Phe654Cys