Canonical Allele Identifier: CA412575504

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266038A>C (hg19) ; chrX:g.22247921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247921A>C , CM000685.2:g.22247921A>C	GRCh38
NC_000023.10:g.22266038A>C , CM000685.1:g.22266038A>C	GRCh37
NC_000023.9:g.22175959A>C	NCBI36
NG_007563.2:g.220118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*156A>C (PHEX)	ENSP00000508059.1:n.*156A>C
ENST00000683289.1:c.624+20310A>C (PHEX)	ENSP00000508195.1:n.624+20310A>C
ENST00000683917.1:n.1002A>C (PHEX)
ENST00000684356.1:c.772A>C (PHEX)	ENSP00000507619.1:p.Asn258His
ENST00000684745.1:n.1892A>C (PHEX)
ENST00000379374.5:c.2218A>C (PHEX) MANE Select	ENSP00000368682.4:p.Asn740His
ENST00000379374.4:c.2218A>C (PHEX)	ENSP00000368682.4:p.Asn740His
NM_000444.5:c.2218A>C (PHEX)	NP_000435.3:p.Asn740His
NM_001282754.1:c.*53A>C (PHEX)	NP_001269683.1:n.*53A>C
XM_011545533.1:c.1462A>C (PHEX)	XP_011543835.1:p.Asn488His
XM_011545534.1:c.1462A>C (PHEX)	XP_011543836.1:p.Asn488His
XM_011545536.1:c.1111A>C (PHEX)	XP_011543838.1:p.Asn371His
XR_950533.1:n.140+6018T>G
XR_950534.1:n.127+6018T>G
NR_073010.2:n.850+6018T>G (PTCHD1-AS)
XM_011545536.2:c.1111A>C (PHEX)	XP_011543838.1:p.Asn371His
XM_017029579.1:c.1462A>C (PHEX)	XP_016885068.1:p.Asn488His
XM_024452390.1:c.1927A>C (PHEX)	XP_024308158.1:p.Asn643His
XR_001755695.1:n.3058A>C (PHEX)
NM_000444.6:c.2218A>C (PHEX) MANE Select	NP_000435.3:p.Asn740His
NM_001282754.2:c.*53A>C (PHEX)	NP_001269683.1:n.*53A>C