Canonical Allele Identifier: CA2592066677

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v3: X-22248134-G-T
• gnomAD v4: X-22248134-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248134G>T , CM000685.2:g.22248134G>T	GRCh38
NC_000023.10:g.22266251G>T , CM000685.1:g.22266251G>T	GRCh37
NC_000023.9:g.22176172G>T	NCBI36
NG_007563.2:g.220331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*369G>T (PHEX)	ENSP00000508059.1:n.*369G>T
ENST00000683289.1:c.624+20523G>T (PHEX)	ENSP00000508195.1:n.624+20523G>T
ENST00000683917.1:n.1158+57G>T (PHEX)
ENST00000684356.1:c.*181G>T (PHEX)	ENSP00000507619.1:n.*181G>T
ENST00000684745.1:n.2105G>T (PHEX)
ENST00000379374.5:c.*181G>T (PHEX) MANE Select	ENSP00000368682.4:n.*181G>T
ENST00000379374.4:c.*181G>T (PHEX)	ENSP00000368682.4:n.*181G>T
NM_000444.5:c.*181G>T (PHEX)	NP_000435.3:n.*181G>T
NM_001282754.1:c.*266G>T (PHEX)	NP_001269683.1:n.*266G>T
XM_011545533.1:c.*181G>T (PHEX)	XP_011543835.1:n.*181G>T
XM_011545534.1:c.*181G>T (PHEX)	XP_011543836.1:n.*181G>T
XM_011545536.1:c.*181G>T (PHEX)	XP_011543838.1:n.*181G>T
XR_950533.1:n.140+5805C>A
XR_950534.1:n.127+5805C>A
NR_073010.2:n.850+5805C>A (PTCHD1-AS)
XM_011545536.2:c.*181G>T (PHEX)	XP_011543838.1:n.*181G>T
XM_017029579.1:c.*181G>T (PHEX)	XP_016885068.1:n.*181G>T
XM_024452390.1:c.*181G>T (PHEX)	XP_024308158.1:n.*181G>T
XR_001755695.1:n.3271G>T (PHEX)
NM_000444.6:c.*181G>T (PHEX) MANE Select	NP_000435.3:n.*181G>T
NM_001282754.2:c.*266G>T (PHEX)	NP_001269683.1:n.*266G>T