Canonical Allele Identifier: CA412575362

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247859G>C , CM000685.2:g.22247859G>C	GRCh38
NC_000023.10:g.22265976G>C , CM000685.1:g.22265976G>C	GRCh37
NC_000023.9:g.22175897G>C	NCBI36
NG_007563.2:g.220056G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.2156G>C (PHEX) MANE Select	NP_000435.3:p.Gly719Ala
ENST00000379374.5:c.2156G>C (PHEX) MANE Select	ENSP00000368682.4:p.Gly719Ala
NM_000444.5:c.2156G>C (PHEX)	NP_000435.3:p.Gly719Ala
NM_001282754.1:c.2079G>C (PHEX)	NP_001269683.1:p.Trp693Cys
NM_001282754.2:c.2079G>C (PHEX)	NP_001269683.1:p.Trp693Cys
NR_073010.2:n.850+6080C>G (PTCHD1-AS)
ENST00000379374.4:c.2156G>C (PHEX)	ENSP00000368682.4:p.Gly719Ala
ENST00000683162.1:c.*94G>C (PHEX)	ENSP00000508059.1:n.*94G>C
ENST00000683289.1:c.624+20248G>C (PHEX)	ENSP00000508195.1:n.624+20248G>C
ENST00000683917.1:n.940G>C (PHEX)
ENST00000684356.1:c.710G>C (PHEX)	ENSP00000507619.1:p.Gly237Ala
ENST00000684745.1:n.1830G>C (PHEX)
XM_011545533.1:c.1400G>C (PHEX)	XP_011543835.1:p.Gly467Ala
XM_011545534.1:c.1400G>C (PHEX)	XP_011543836.1:p.Gly467Ala
XM_011545536.1:c.1049G>C (PHEX)	XP_011543838.1:p.Gly350Ala
XM_011545536.2:c.1049G>C (PHEX)	XP_011543838.1:p.Gly350Ala
XM_017029579.1:c.1400G>C (PHEX)	XP_016885068.1:p.Gly467Ala
XM_024452390.1:c.1865G>C (PHEX)	XP_024308158.1:p.Gly622Ala
XR_001755695.1:n.2996G>C (PHEX)
XR_950533.1:n.140+6080C>G
XR_950534.1:n.127+6080C>G