Canonical Allele Identifier: CA412573455

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22239739A>C (hg19) ; chrX:g.22221622A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221622A>C , CM000685.2:g.22221622A>C	GRCh38
NC_000023.10:g.22239739A>C , CM000685.1:g.22239739A>C	GRCh37
NC_000023.9:g.22149660A>C	NCBI36
NG_007563.2:g.193819A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.332A>C (PHEX)	ENSP00000508003.1:p.Tyr111Ser
ENST00000683162.1:c.332A>C (PHEX)	ENSP00000508059.1:p.Tyr111Ser
ENST00000683289.1:c.332A>C (PHEX)	ENSP00000508195.1:p.Tyr111Ser
ENST00000683917.1:n.562A>C (PHEX)
ENST00000684356.1:c.332A>C (PHEX)	ENSP00000507619.1:p.Tyr111Ser
ENST00000684745.1:n.1452A>C (PHEX)
ENST00000379374.5:c.1778A>C (PHEX) MANE Select	ENSP00000368682.4:p.Tyr593Ser
ENST00000379374.4:c.1778A>C (PHEX)	ENSP00000368682.4:p.Tyr593Ser
NM_000444.5:c.1778A>C (PHEX)	NP_000435.3:p.Tyr593Ser
NM_001282754.1:c.1778A>C (PHEX)	NP_001269683.1:p.Tyr593Ser
XM_011545533.1:c.1022A>C (PHEX)	XP_011543835.1:p.Tyr341Ser
XM_011545534.1:c.1022A>C (PHEX)	XP_011543836.1:p.Tyr341Ser
XM_011545536.1:c.671A>C (PHEX)	XP_011543838.1:p.Tyr224Ser
NR_073010.2:n.1048+5848T>G (PTCHD1-AS)
XM_011545536.2:c.671A>C (PHEX)	XP_011543838.1:p.Tyr224Ser
XM_017029579.1:c.1022A>C (PHEX)	XP_016885068.1:p.Tyr341Ser
XM_024452390.1:c.1487A>C (PHEX)	XP_024308158.1:p.Tyr496Ser
XR_001755695.1:n.2618A>C (PHEX)
NM_000444.6:c.1778A>C (PHEX) MANE Select	NP_000435.3:p.Tyr593Ser
NM_001282754.2:c.1778A>C (PHEX)	NP_001269683.1:p.Tyr593Ser