Canonical Allele Identifier: CA2419161990
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076464C= , CM000685.2:g.22076464C= GRCh38
NC_000023.10:g.22094582C= , CM000685.1:g.22094582C= GRCh37
NC_000023.9:g.22004503C= NCBI36
NG_007563.2:g.48662C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.852C=
ENST00000683214.1:n.545-1012C=
ENST00000684143.1:c.426C= ENSP00000508264.1:p.Cys142=
ENST00000684745.1:n.103C=
ENST00000379374.5:c.426C= MANE Select ENSP00000368682.4:p.Cys142=
ENST00000379374.4:c.426C= ENSP00000368682.4:p.Cys142=
NM_000444.5:c.426C= NP_000435.3:p.Cys142=
NM_001282754.1:c.426C= NP_001269683.1:p.Cys142=
XM_011545535.1:c.426C= XP_011543837.1:p.Cys142=
XM_017029579.1:c.-93-13965C= XP_016885068.1:n.-93-13965C=
XM_024452390.1:c.135C= XP_024308158.1:p.Cys45=
XR_001755695.1:n.1105C=
NM_000444.6:c.426C= MANE Select NP_000435.3:p.Cys142=
NM_001282754.2:c.426C= NP_001269683.1:p.Cys142=