Canonical Allele Identifier: CA2419162043
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076553T= , CM000685.2:g.22076553T= GRCh38
NC_000023.10:g.22094671T= , CM000685.1:g.22094671T= GRCh37
NC_000023.9:g.22004592T= NCBI36
NG_007563.2:g.48751T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.862+79T=
ENST00000683214.1:n.545-923T=
ENST00000684143.1:c.436+79T= ENSP00000508264.1:n.436+79T=
ENST00000684745.1:n.113+79T=
ENST00000379374.5:c.436+79T= MANE Select ENSP00000368682.4:n.436+79T=
ENST00000379374.4:c.436+79T= ENSP00000368682.4:n.436+79T=
NM_000444.5:c.436+79T= NP_000435.3:n.436+79T=
NM_001282754.1:c.436+79T= NP_001269683.1:n.436+79T=
XM_011545535.1:c.436+79T= XP_011543837.1:n.436+79T=
XM_017029579.1:c.-93-13876T= XP_016885068.1:n.-93-13876T=
XM_024452390.1:c.145+79T= XP_024308158.1:n.145+79T=
XR_001755695.1:n.1115+79T=
NM_000444.6:c.436+79T= MANE Select NP_000435.3:n.436+79T=
NM_001282754.2:c.436+79T= NP_001269683.1:n.436+79T=