Canonical Allele Identifier: CA412573463

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 952926
• ClinVar RCV Id: RCV001225136
• dbSNP Id: rs1935269189
• MyVariant Identifiers: chrX:g.22239740T>G (hg19) ; chrX:g.22221623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221623T>G , CM000685.2:g.22221623T>G	GRCh38
NC_000023.10:g.22239740T>G , CM000685.1:g.22239740T>G	GRCh37
NC_000023.9:g.22149661T>G	NCBI36
NG_007563.2:g.193820T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.333T>G (PHEX)	ENSP00000508003.1:p.Tyr111Ter
ENST00000683162.1:c.333T>G (PHEX)	ENSP00000508059.1:p.Tyr111Ter
ENST00000683289.1:c.333T>G (PHEX)	ENSP00000508195.1:p.Tyr111Ter
ENST00000683917.1:n.563T>G (PHEX)
ENST00000684356.1:c.333T>G (PHEX)	ENSP00000507619.1:p.Tyr111Ter
ENST00000684745.1:n.1453T>G (PHEX)
ENST00000379374.5:c.1779T>G (PHEX) MANE Select	ENSP00000368682.4:p.Tyr593Ter
ENST00000379374.4:c.1779T>G (PHEX)	ENSP00000368682.4:p.Tyr593Ter
NM_000444.5:c.1779T>G (PHEX)	NP_000435.3:p.Tyr593Ter
NM_001282754.1:c.1779T>G (PHEX)	NP_001269683.1:p.Tyr593Ter
XM_011545533.1:c.1023T>G (PHEX)	XP_011543835.1:p.Tyr341Ter
XM_011545534.1:c.1023T>G (PHEX)	XP_011543836.1:p.Tyr341Ter
XM_011545536.1:c.672T>G (PHEX)	XP_011543838.1:p.Tyr224Ter
NR_073010.2:n.1048+5847A>C (PTCHD1-AS)
XM_011545536.2:c.672T>G (PHEX)	XP_011543838.1:p.Tyr224Ter
XM_017029579.1:c.1023T>G (PHEX)	XP_016885068.1:p.Tyr341Ter
XM_024452390.1:c.1488T>G (PHEX)	XP_024308158.1:p.Tyr496Ter
XR_001755695.1:n.2619T>G (PHEX)
NM_000444.6:c.1779T>G (PHEX) MANE Select	NP_000435.3:p.Tyr593Ter
NM_001282754.2:c.1779T>G (PHEX)	NP_001269683.1:p.Tyr593Ter