Canonical Allele Identifier: CA2419195625
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178426C= , CM000685.2:g.22178426C= GRCh38
NC_000023.10:g.22196543C= , CM000685.1:g.22196543C= GRCh37
NC_000023.9:g.22106464C= NCBI36
NG_007563.2:g.150623C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.140+50C= ENSP00000508003.1:n.140+50C=
ENST00000683162.1:c.140+50C= ENSP00000508059.1:n.140+50C=
ENST00000683289.1:c.140+50C= ENSP00000508195.1:n.140+50C=
ENST00000683917.1:n.370+50C=
ENST00000684356.1:c.140+50C= ENSP00000507619.1:n.140+50C=
ENST00000684745.1:n.1260+50C=
ENST00000379374.5:c.1586+50C= MANE Select ENSP00000368682.4:n.1586+50C=
ENST00000379374.4:c.1586+50C= ENSP00000368682.4:n.1586+50C=
NM_000444.5:c.1586+50C= NP_000435.3:n.1586+50C=
NM_001282754.1:c.1586+50C= NP_001269683.1:n.1586+50C=
XM_011545533.1:c.830+50C= XP_011543835.1:n.830+50C=
XM_011545534.1:c.830+50C= XP_011543836.1:n.830+50C=
XM_011545536.1:c.479+50C= XP_011543838.1:n.479+50C=
XM_011545536.2:c.479+50C= XP_011543838.1:n.479+50C=
XM_017029579.1:c.830+50C= XP_016885068.1:n.830+50C=
XM_024452390.1:c.1295+50C= XP_024308158.1:n.1295+50C=
XR_001755695.1:n.2426+50C=
NM_000444.6:c.1586+50C= MANE Select NP_000435.3:n.1586+50C=
NM_001282754.2:c.1586+50C= NP_001269683.1:n.1586+50C=