Canonical Allele Identifier: CA515431377

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22247953-G-A
• MyVariant Identifiers: chrX:g.22266070G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247953G>A , CM000685.2:g.22247953G>A	GRCh38
NC_000023.10:g.22266070G>A , CM000685.1:g.22266070G>A	GRCh37
NC_000023.9:g.22175991G>A	NCBI36
NG_007563.2:g.220150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*188G>A (PHEX)	ENSP00000508059.1:n.*188G>A
ENST00000683289.1:c.624+20342G>A (PHEX)	ENSP00000508195.1:n.624+20342G>A
ENST00000683917.1:n.1034G>A (PHEX)
ENST00000684356.1:c.804G>A (PHEX)	ENSP00000507619.1:p.Ter268=
ENST00000684745.1:n.1924G>A (PHEX)
ENST00000379374.5:c.2250G>A (PHEX) MANE Select	ENSP00000368682.4:p.Ter750=
ENST00000379374.4:c.2250G>A (PHEX)	ENSP00000368682.4:p.Ter750=
NM_000444.5:c.2250G>A (PHEX)	NP_000435.3:p.Ter750=
NM_001282754.1:c.*85G>A (PHEX)	NP_001269683.1:n.*85G>A
XM_011545533.1:c.1494G>A (PHEX)	XP_011543835.1:p.Ter498=
XM_011545534.1:c.1494G>A (PHEX)	XP_011543836.1:p.Ter498=
XM_011545536.1:c.1143G>A (PHEX)	XP_011543838.1:p.Ter381=
XR_950533.1:n.140+5986C>T
XR_950534.1:n.127+5986C>T
NR_073010.2:n.850+5986C>T (PTCHD1-AS)
XM_011545536.2:c.1143G>A (PHEX)	XP_011543838.1:p.Ter381=
XM_017029579.1:c.1494G>A (PHEX)	XP_016885068.1:p.Ter498=
XM_024452390.1:c.1959G>A (PHEX)	XP_024308158.1:p.Ter653=
XR_001755695.1:n.3090G>A (PHEX)
NM_000444.6:c.2250G>A (PHEX) MANE Select	NP_000435.3:p.Ter750=
NM_001282754.2:c.*85G>A (PHEX)	NP_001269683.1:n.*85G>A