Canonical Allele Identifier: CA412575727

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219041T>C , CM000685.2:g.22219041T>C	GRCh38
NC_000023.10:g.22237158T>C , CM000685.1:g.22237158T>C	GRCh37
NC_000023.9:g.22147079T>C	NCBI36
NG_007563.2:g.191238T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1706T>C (PHEX) MANE Select	NP_000435.3:p.Leu569Pro
ENST00000379374.5:c.1706T>C (PHEX) MANE Select	ENSP00000368682.4:p.Leu569Pro
NM_000444.5:c.1706T>C (PHEX)	NP_000435.3:p.Leu569Pro
NM_001282754.1:c.1706T>C (PHEX)	NP_001269683.1:p.Leu569Pro
NM_001282754.2:c.1706T>C (PHEX)	NP_001269683.1:p.Leu569Pro
NR_073010.2:n.1048+8429A>G (PTCHD1-AS)
ENST00000379374.4:c.1706T>C (PHEX)	ENSP00000368682.4:p.Leu569Pro
ENST00000682888.1:c.260T>C (PHEX)	ENSP00000508003.1:p.Leu87Pro
ENST00000683162.1:c.260T>C (PHEX)	ENSP00000508059.1:p.Leu87Pro
ENST00000683289.1:c.260T>C (PHEX)	ENSP00000508195.1:p.Leu87Pro
ENST00000683917.1:n.490T>C (PHEX)
ENST00000684356.1:c.260T>C (PHEX)	ENSP00000507619.1:p.Leu87Pro
ENST00000684745.1:n.1380T>C (PHEX)
XM_011545533.1:c.950T>C (PHEX)	XP_011543835.1:p.Leu317Pro
XM_011545534.1:c.950T>C (PHEX)	XP_011543836.1:p.Leu317Pro
XM_011545536.1:c.599T>C (PHEX)	XP_011543838.1:p.Leu200Pro
XM_011545536.2:c.599T>C (PHEX)	XP_011543838.1:p.Leu200Pro
XM_017029579.1:c.950T>C (PHEX)	XP_016885068.1:p.Leu317Pro
XM_024452390.1:c.1415T>C (PHEX)	XP_024308158.1:p.Leu472Pro
XR_001755695.1:n.2546T>C (PHEX)