Canonical Allele Identifier: CA412575800

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22237196T>C (hg19) ; chrX:g.22219079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219079T>C , CM000685.2:g.22219079T>C	GRCh38
NC_000023.10:g.22237196T>C , CM000685.1:g.22237196T>C	GRCh37
NC_000023.9:g.22147117T>C	NCBI36
NG_007563.2:g.191276T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.298T>C (PHEX)	ENSP00000508003.1:p.Phe100Leu
ENST00000683162.1:c.298T>C (PHEX)	ENSP00000508059.1:p.Phe100Leu
ENST00000683289.1:c.298T>C (PHEX)	ENSP00000508195.1:p.Phe100Leu
ENST00000683917.1:n.528T>C (PHEX)
ENST00000684356.1:c.298T>C (PHEX)	ENSP00000507619.1:p.Phe100Leu
ENST00000684745.1:n.1418T>C (PHEX)
ENST00000379374.5:c.1744T>C (PHEX) MANE Select	ENSP00000368682.4:p.Phe582Leu
ENST00000379374.4:c.1744T>C (PHEX)	ENSP00000368682.4:p.Phe582Leu
NM_000444.5:c.1744T>C (PHEX)	NP_000435.3:p.Phe582Leu
NM_001282754.1:c.1744T>C (PHEX)	NP_001269683.1:p.Phe582Leu
XM_011545533.1:c.988T>C (PHEX)	XP_011543835.1:p.Phe330Leu
XM_011545534.1:c.988T>C (PHEX)	XP_011543836.1:p.Phe330Leu
XM_011545536.1:c.637T>C (PHEX)	XP_011543838.1:p.Phe213Leu
NR_073010.2:n.1048+8391A>G (PTCHD1-AS)
XM_011545536.2:c.637T>C (PHEX)	XP_011543838.1:p.Phe213Leu
XM_017029579.1:c.988T>C (PHEX)	XP_016885068.1:p.Phe330Leu
XM_024452390.1:c.1453T>C (PHEX)	XP_024308158.1:p.Phe485Leu
XR_001755695.1:n.2584T>C (PHEX)
NM_000444.6:c.1744T>C (PHEX) MANE Select	NP_000435.3:p.Phe582Leu
NM_001282754.2:c.1744T>C (PHEX)	NP_001269683.1:p.Phe582Leu