Canonical Allele Identifier: CA2419152337
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047049G= , CM000685.2:g.22047049G= GRCh38
NC_000023.10:g.22065167G= , CM000685.1:g.22065167G= GRCh37
NC_000023.9:g.21975088G= NCBI36
NG_007563.2:g.19247G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.614-1G=
ENST00000683214.1:n.544+13926G=
ENST00000684143.1:c.188-1G= ENSP00000508264.1:n.188-1G=
ENST00000379374.5:c.188-1G= MANE Select ENSP00000368682.4:n.188-1G=
ENST00000379374.4:c.188-1G= ENSP00000368682.4:n.188-1G=
NM_000444.5:c.188-1G= NP_000435.3:n.188-1G=
NM_001282754.1:c.188-1G= NP_001269683.1:n.188-1G=
XM_011545535.1:c.188-1G= XP_011543837.1:n.188-1G=
XM_024452390.1:c.-104-1G= XP_024308158.1:n.-104-1G=
XR_001755695.1:n.867-1G=
NM_000444.6:c.188-1G= MANE Select NP_000435.3:n.188-1G=
NM_001282754.2:c.188-1G= NP_001269683.1:n.188-1G=