Canonical Allele Identifier: CA412575316

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22245402C>T , CM000685.2:g.22245402C>T	GRCh38
NC_000023.10:g.22263519C>T , CM000685.1:g.22263519C>T	GRCh37
NC_000023.9:g.22173440C>T	NCBI36
NG_007563.2:g.217599C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.2140C>T (PHEX) MANE Select	NP_000435.3:p.Gln714Ter
ENST00000379374.5:c.2140C>T (PHEX) MANE Select	ENSP00000368682.4:p.Gln714Ter
NM_000444.5:c.2140C>T (PHEX)	NP_000435.3:p.Gln714Ter
NM_001282754.1:c.2071-2449C>T (PHEX)	NP_001269683.1:n.2071-2449C>T
NM_001282754.2:c.2071-2449C>T (PHEX)	NP_001269683.1:n.2071-2449C>T
NR_073010.2:n.850+8537G>A (PTCHD1-AS)
ENST00000379374.4:c.2140C>T (PHEX)	ENSP00000368682.4:p.Gln714Ter
ENST00000683162.1:c.694C>T (PHEX)	ENSP00000508059.1:p.Gln232Ter
ENST00000683289.1:c.624+17791C>T (PHEX)	ENSP00000508195.1:n.624+17791C>T
ENST00000683917.1:n.924C>T (PHEX)
ENST00000684356.1:c.694C>T (PHEX)	ENSP00000507619.1:p.Gln232Ter
ENST00000684745.1:n.1814C>T (PHEX)
XM_011545533.1:c.1384C>T (PHEX)	XP_011543835.1:p.Gln462Ter
XM_011545534.1:c.1384C>T (PHEX)	XP_011543836.1:p.Gln462Ter
XM_011545536.1:c.1033C>T (PHEX)	XP_011543838.1:p.Gln345Ter
XM_011545536.2:c.1033C>T (PHEX)	XP_011543838.1:p.Gln345Ter
XM_017029579.1:c.1384C>T (PHEX)	XP_016885068.1:p.Gln462Ter
XM_024452390.1:c.1849C>T (PHEX)	XP_024308158.1:p.Gln617Ter
XR_001755695.1:n.2980C>T (PHEX)
XR_950533.1:n.140+8537G>A
XR_950534.1:n.127+8537G>A