Canonical Allele Identifier: CA412575422

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266002C>G (hg19) ; chrX:g.22247885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247885C>G , CM000685.2:g.22247885C>G	GRCh38
NC_000023.10:g.22266002C>G , CM000685.1:g.22266002C>G	GRCh37
NC_000023.9:g.22175923C>G	NCBI36
NG_007563.2:g.220082C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*120C>G (PHEX)	ENSP00000508059.1:n.*120C>G
ENST00000683289.1:c.624+20274C>G (PHEX)	ENSP00000508195.1:n.624+20274C>G
ENST00000683917.1:n.966C>G (PHEX)
ENST00000684356.1:c.736C>G (PHEX)	ENSP00000507619.1:p.Gln246Glu
ENST00000684745.1:n.1856C>G (PHEX)
ENST00000379374.5:c.2182C>G (PHEX) MANE Select	ENSP00000368682.4:p.Gln728Glu
ENST00000379374.4:c.2182C>G (PHEX)	ENSP00000368682.4:p.Gln728Glu
NM_000444.5:c.2182C>G (PHEX)	NP_000435.3:p.Gln728Glu
NM_001282754.1:c.*17C>G (PHEX)	NP_001269683.1:n.*17C>G
XM_011545533.1:c.1426C>G (PHEX)	XP_011543835.1:p.Gln476Glu
XM_011545534.1:c.1426C>G (PHEX)	XP_011543836.1:p.Gln476Glu
XM_011545536.1:c.1075C>G (PHEX)	XP_011543838.1:p.Gln359Glu
XR_950533.1:n.140+6054G>C
XR_950534.1:n.127+6054G>C
NR_073010.2:n.850+6054G>C (PTCHD1-AS)
XM_011545536.2:c.1075C>G (PHEX)	XP_011543838.1:p.Gln359Glu
XM_017029579.1:c.1426C>G (PHEX)	XP_016885068.1:p.Gln476Glu
XM_024452390.1:c.1891C>G (PHEX)	XP_024308158.1:p.Gln631Glu
XR_001755695.1:n.3022C>G (PHEX)
NM_000444.6:c.2182C>G (PHEX) MANE Select	NP_000435.3:p.Gln728Glu
NM_001282754.2:c.*17C>G (PHEX)	NP_001269683.1:n.*17C>G