Canonical Allele Identifier: CA412575553

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2737130
• ClinVar RCV Id: RCV003560220
• MyVariant Identifiers: chrX:g.22266058C>A (hg19) ; chrX:g.22247941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247941C>A , CM000685.2:g.22247941C>A	GRCh38
NC_000023.10:g.22266058C>A , CM000685.1:g.22266058C>A	GRCh37
NC_000023.9:g.22175979C>A	NCBI36
NG_007563.2:g.220138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*176C>A (PHEX)	ENSP00000508059.1:n.*176C>A
ENST00000683289.1:c.624+20330C>A (PHEX)	ENSP00000508195.1:n.624+20330C>A
ENST00000683917.1:n.1022C>A (PHEX)
ENST00000684356.1:c.792C>A (PHEX)	ENSP00000507619.1:p.Cys264Ter
ENST00000684745.1:n.1912C>A (PHEX)
ENST00000379374.5:c.2238C>A (PHEX) MANE Select	ENSP00000368682.4:p.Cys746Ter
ENST00000379374.4:c.2238C>A (PHEX)	ENSP00000368682.4:p.Cys746Ter
NM_000444.5:c.2238C>A (PHEX)	NP_000435.3:p.Cys746Ter
NM_001282754.1:c.*73C>A (PHEX)	NP_001269683.1:n.*73C>A
XM_011545533.1:c.1482C>A (PHEX)	XP_011543835.1:p.Cys494Ter
XM_011545534.1:c.1482C>A (PHEX)	XP_011543836.1:p.Cys494Ter
XM_011545536.1:c.1131C>A (PHEX)	XP_011543838.1:p.Cys377Ter
XR_950533.1:n.140+5998G>T
XR_950534.1:n.127+5998G>T
NR_073010.2:n.850+5998G>T (PTCHD1-AS)
XM_011545536.2:c.1131C>A (PHEX)	XP_011543838.1:p.Cys377Ter
XM_017029579.1:c.1482C>A (PHEX)	XP_016885068.1:p.Cys494Ter
XM_024452390.1:c.1947C>A (PHEX)	XP_024308158.1:p.Cys649Ter
XR_001755695.1:n.3078C>A (PHEX)
NM_000444.6:c.2238C>A (PHEX) MANE Select	NP_000435.3:p.Cys746Ter
NM_001282754.2:c.*73C>A (PHEX)	NP_001269683.1:n.*73C>A