Canonical Allele Identifier: CA2419208690
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219019A= , CM000685.2:g.22219019A= GRCh38
NC_000023.10:g.22237136A= , CM000685.1:g.22237136A= GRCh37
NC_000023.9:g.22147057A= NCBI36
NG_007563.2:g.191216A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.255-17A= (PHEX) ENSP00000508003.1:n.255-17A=
ENST00000683162.1:c.255-17A= (PHEX) ENSP00000508059.1:n.255-17A=
ENST00000683289.1:c.255-17A= (PHEX) ENSP00000508195.1:n.255-17A=
ENST00000683917.1:n.485-17A= (PHEX)
ENST00000684356.1:c.255-17A= (PHEX) ENSP00000507619.1:n.255-17A=
ENST00000684745.1:n.1375-17A= (PHEX)
ENST00000379374.5:c.1701-17A= (PHEX) MANE Select ENSP00000368682.4:n.1701-17A=
ENST00000379374.4:c.1701-17A= (PHEX) ENSP00000368682.4:n.1701-17A=
NM_000444.5:c.1701-17A= (PHEX) NP_000435.3:n.1701-17A=
NM_001282754.1:c.1701-17A= (PHEX) NP_001269683.1:n.1701-17A=
XM_011545533.1:c.945-17A= (PHEX) XP_011543835.1:n.945-17A=
XM_011545534.1:c.945-17A= (PHEX) XP_011543836.1:n.945-17A=
XM_011545536.1:c.594-17A= (PHEX) XP_011543838.1:n.594-17A=
NR_073010.2:n.1048+8451T= (PTCHD1-AS)
XM_011545536.2:c.594-17A= (PHEX) XP_011543838.1:n.594-17A=
XM_017029579.1:c.945-17A= (PHEX) XP_016885068.1:n.945-17A=
XM_024452390.1:c.1410-17A= (PHEX) XP_024308158.1:n.1410-17A=
XR_001755695.1:n.2541-17A= (PHEX)
NM_000444.6:c.1701-17A= (PHEX) MANE Select NP_000435.3:n.1701-17A=
NM_001282754.2:c.1701-17A= (PHEX) NP_001269683.1:n.1701-17A=