Canonical Allele Identifier: CA412575378

Gene: PHEX PTCHD1-AS

Linked Data

• COSMIC: COSM314119
• MyVariant Identifiers: chrX:g.22265985G>C (hg19) ; chrX:g.22247868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247868G>C , CM000685.2:g.22247868G>C	GRCh38
NC_000023.10:g.22265985G>C , CM000685.1:g.22265985G>C	GRCh37
NC_000023.9:g.22175906G>C	NCBI36
NG_007563.2:g.220065G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*103G>C (PHEX)	ENSP00000508059.1:n.*103G>C
ENST00000683289.1:c.624+20257G>C (PHEX)	ENSP00000508195.1:n.624+20257G>C
ENST00000683917.1:n.949G>C (PHEX)
ENST00000684356.1:c.719G>C (PHEX)	ENSP00000507619.1:p.Ser240Thr
ENST00000684745.1:n.1839G>C (PHEX)
ENST00000379374.5:c.2165G>C (PHEX) MANE Select	ENSP00000368682.4:p.Ser722Thr
ENST00000379374.4:c.2165G>C (PHEX)	ENSP00000368682.4:p.Ser722Thr
NM_000444.5:c.2165G>C (PHEX)	NP_000435.3:p.Ser722Thr
NM_001282754.1:c.2088G>C (PHEX)	NP_001269683.1:p.Ter696Tyr
XM_011545533.1:c.1409G>C (PHEX)	XP_011543835.1:p.Ser470Thr
XM_011545534.1:c.1409G>C (PHEX)	XP_011543836.1:p.Ser470Thr
XM_011545536.1:c.1058G>C (PHEX)	XP_011543838.1:p.Ser353Thr
XR_950533.1:n.140+6071C>G
XR_950534.1:n.127+6071C>G
NR_073010.2:n.850+6071C>G (PTCHD1-AS)
XM_011545536.2:c.1058G>C (PHEX)	XP_011543838.1:p.Ser353Thr
XM_017029579.1:c.1409G>C (PHEX)	XP_016885068.1:p.Ser470Thr
XM_024452390.1:c.1874G>C (PHEX)	XP_024308158.1:p.Ser625Thr
XR_001755695.1:n.3005G>C (PHEX)
NM_000444.6:c.2165G>C (PHEX) MANE Select	NP_000435.3:p.Ser722Thr
NM_001282754.2:c.2088G>C (PHEX)	NP_001269683.1:p.Ter696Tyr