Canonical Allele Identifier: CA412575433

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266005A>C (hg19) ; chrX:g.22247888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247888A>C , CM000685.2:g.22247888A>C	GRCh38
NC_000023.10:g.22266005A>C , CM000685.1:g.22266005A>C	GRCh37
NC_000023.9:g.22175926A>C	NCBI36
NG_007563.2:g.220085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*123A>C (PHEX)	ENSP00000508059.1:n.*123A>C
ENST00000683289.1:c.624+20277A>C (PHEX)	ENSP00000508195.1:n.624+20277A>C
ENST00000683917.1:n.969A>C (PHEX)
ENST00000684356.1:c.739A>C (PHEX)	ENSP00000507619.1:p.Lys247Gln
ENST00000684745.1:n.1859A>C (PHEX)
ENST00000379374.5:c.2185A>C (PHEX) MANE Select	ENSP00000368682.4:p.Lys729Gln
ENST00000379374.4:c.2185A>C (PHEX)	ENSP00000368682.4:p.Lys729Gln
NM_000444.5:c.2185A>C (PHEX)	NP_000435.3:p.Lys729Gln
NM_001282754.1:c.*20A>C (PHEX)	NP_001269683.1:n.*20A>C
XM_011545533.1:c.1429A>C (PHEX)	XP_011543835.1:p.Lys477Gln
XM_011545534.1:c.1429A>C (PHEX)	XP_011543836.1:p.Lys477Gln
XM_011545536.1:c.1078A>C (PHEX)	XP_011543838.1:p.Lys360Gln
XR_950533.1:n.140+6051T>G
XR_950534.1:n.127+6051T>G
NR_073010.2:n.850+6051T>G (PTCHD1-AS)
XM_011545536.2:c.1078A>C (PHEX)	XP_011543838.1:p.Lys360Gln
XM_017029579.1:c.1429A>C (PHEX)	XP_016885068.1:p.Lys477Gln
XM_024452390.1:c.1894A>C (PHEX)	XP_024308158.1:p.Lys632Gln
XR_001755695.1:n.3025A>C (PHEX)
NM_000444.6:c.2185A>C (PHEX) MANE Select	NP_000435.3:p.Lys729Gln
NM_001282754.2:c.*20A>C (PHEX)	NP_001269683.1:n.*20A>C