Canonical Allele Identifier: CA412567671
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047132C>A , CM000685.2:g.22047132C>A GRCh38
NC_000023.10:g.22065250C>A , CM000685.1:g.22065250C>A GRCh37
NC_000023.9:g.21975171C>A NCBI36
NG_007563.2:g.19330C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.696C>A
ENST00000683214.1:n.544+14009C>A
ENST00000684143.1:c.270C>A ENSP00000508264.1:p.Ser90Arg
ENST00000379374.5:c.270C>A MANE Select ENSP00000368682.4:p.Ser90Arg
ENST00000379374.4:c.270C>A ENSP00000368682.4:p.Ser90Arg
NM_000444.5:c.270C>A NP_000435.3:p.Ser90Arg
NM_001282754.1:c.270C>A NP_001269683.1:p.Ser90Arg
XM_011545535.1:c.270C>A XP_011543837.1:p.Ser90Arg
XM_024452390.1:c.-22C>A XP_024308158.1:n.-22C>A
XR_001755695.1:n.949C>A
NM_000444.6:c.270C>A MANE Select NP_000435.3:p.Ser90Arg
NM_001282754.2:c.270C>A NP_001269683.1:p.Ser90Arg