Canonical Allele Identifier: CA412575496

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266035A>G (hg19) ; chrX:g.22247918A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247918A>G , CM000685.2:g.22247918A>G	GRCh38
NC_000023.10:g.22266035A>G , CM000685.1:g.22266035A>G	GRCh37
NC_000023.9:g.22175956A>G	NCBI36
NG_007563.2:g.220115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*153A>G (PHEX)	ENSP00000508059.1:n.*153A>G
ENST00000683289.1:c.624+20307A>G (PHEX)	ENSP00000508195.1:n.624+20307A>G
ENST00000683917.1:n.999A>G (PHEX)
ENST00000684356.1:c.769A>G (PHEX)	ENSP00000507619.1:p.Met257Val
ENST00000684745.1:n.1889A>G (PHEX)
ENST00000379374.5:c.2215A>G (PHEX) MANE Select	ENSP00000368682.4:p.Met739Val
ENST00000379374.4:c.2215A>G (PHEX)	ENSP00000368682.4:p.Met739Val
NM_000444.5:c.2215A>G (PHEX)	NP_000435.3:p.Met739Val
NM_001282754.1:c.*50A>G (PHEX)	NP_001269683.1:n.*50A>G
XM_011545533.1:c.1459A>G (PHEX)	XP_011543835.1:p.Met487Val
XM_011545534.1:c.1459A>G (PHEX)	XP_011543836.1:p.Met487Val
XM_011545536.1:c.1108A>G (PHEX)	XP_011543838.1:p.Met370Val
XR_950533.1:n.140+6021T>C
XR_950534.1:n.127+6021T>C
NR_073010.2:n.850+6021T>C (PTCHD1-AS)
XM_011545536.2:c.1108A>G (PHEX)	XP_011543838.1:p.Met370Val
XM_017029579.1:c.1459A>G (PHEX)	XP_016885068.1:p.Met487Val
XM_024452390.1:c.1924A>G (PHEX)	XP_024308158.1:p.Met642Val
XR_001755695.1:n.3055A>G (PHEX)
NM_000444.6:c.2215A>G (PHEX) MANE Select	NP_000435.3:p.Met739Val
NM_001282754.2:c.*50A>G (PHEX)	NP_001269683.1:n.*50A>G