Canonical Allele Identifier: CA2693308533

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22248066-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248066T>A , CM000685.2:g.22248066T>A	GRCh38
NC_000023.10:g.22266183T>A , CM000685.1:g.22266183T>A	GRCh37
NC_000023.9:g.22176104T>A	NCBI36
NG_007563.2:g.220263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*301T>A (PHEX)	ENSP00000508059.1:n.*301T>A
ENST00000683289.1:c.624+20455T>A (PHEX)	ENSP00000508195.1:n.624+20455T>A
ENST00000683917.1:n.1147T>A (PHEX)
ENST00000684356.1:c.*113T>A (PHEX)	ENSP00000507619.1:n.*113T>A
ENST00000684745.1:n.2037T>A (PHEX)
ENST00000379374.5:c.*113T>A (PHEX) MANE Select	ENSP00000368682.4:n.*113T>A
ENST00000379374.4:c.*113T>A (PHEX)	ENSP00000368682.4:n.*113T>A
NM_000444.5:c.*113T>A (PHEX)	NP_000435.3:n.*113T>A
NM_001282754.1:c.*198T>A (PHEX)	NP_001269683.1:n.*198T>A
XM_011545533.1:c.*113T>A (PHEX)	XP_011543835.1:n.*113T>A
XM_011545534.1:c.*113T>A (PHEX)	XP_011543836.1:n.*113T>A
XM_011545536.1:c.*113T>A (PHEX)	XP_011543838.1:n.*113T>A
XR_950533.1:n.140+5873A>T
XR_950534.1:n.127+5873A>T
NR_073010.2:n.850+5873A>T (PTCHD1-AS)
XM_011545536.2:c.*113T>A (PHEX)	XP_011543838.1:n.*113T>A
XM_017029579.1:c.*113T>A (PHEX)	XP_016885068.1:n.*113T>A
XM_024452390.1:c.*113T>A (PHEX)	XP_024308158.1:n.*113T>A
XR_001755695.1:n.3203T>A (PHEX)
NM_000444.6:c.*113T>A (PHEX) MANE Select	NP_000435.3:n.*113T>A
NM_001282754.2:c.*198T>A (PHEX)	NP_001269683.1:n.*198T>A