Canonical Allele Identifier: CA327532444

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs111636676
• gnomAD v4: X-22226459-C-A
• MyVariant Identifiers: chrX:g.22244576C>A (hg19) ; chrX:g.22226459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226459C>A , CM000685.2:g.22226459C>A	GRCh38
NC_000023.10:g.22244576C>A , CM000685.1:g.22244576C>A	GRCh37
NC_000023.9:g.22154497C>A	NCBI36
NG_007563.2:g.198656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.470C>A (PHEX)	ENSP00000508003.1:p.Thr157Asn
ENST00000683162.1:c.470C>A (PHEX)	ENSP00000508059.1:p.Thr157Asn
ENST00000683289.1:c.470C>A (PHEX)	ENSP00000508195.1:p.Thr157Asn
ENST00000683917.1:n.700C>A (PHEX)
ENST00000684356.1:c.470C>A (PHEX)	ENSP00000507619.1:p.Thr157Asn
ENST00000684745.1:n.1590C>A (PHEX)
ENST00000379374.5:c.1916C>A (PHEX) MANE Select	ENSP00000368682.4:p.Thr639Asn
ENST00000379374.4:c.1916C>A (PHEX)	ENSP00000368682.4:p.Thr639Asn
NM_000444.5:c.1916C>A (PHEX)	NP_000435.3:p.Thr639Asn
NM_001282754.1:c.1916C>A (PHEX)	NP_001269683.1:p.Thr639Asn
XM_011545533.1:c.1160C>A (PHEX)	XP_011543835.1:p.Thr387Asn
XM_011545534.1:c.1160C>A (PHEX)	XP_011543836.1:p.Thr387Asn
XM_011545536.1:c.809C>A (PHEX)	XP_011543838.1:p.Thr270Asn
XR_950534.1:n.326-436G>T
NR_073010.2:n.1048+1011G>T (PTCHD1-AS)
XM_011545536.2:c.809C>A (PHEX)	XP_011543838.1:p.Thr270Asn
XM_017029579.1:c.1160C>A (PHEX)	XP_016885068.1:p.Thr387Asn
XM_024452390.1:c.1625C>A (PHEX)	XP_024308158.1:p.Thr542Asn
XR_001755695.1:n.2756C>A (PHEX)
NM_000444.6:c.1916C>A (PHEX) MANE Select	NP_000435.3:p.Thr639Asn
NM_001282754.2:c.1916C>A (PHEX)	NP_001269683.1:p.Thr639Asn