Canonical Allele Identifier: CA2419152389
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047174T= , CM000685.2:g.22047174T= GRCh38
NC_000023.10:g.22065292T= , CM000685.1:g.22065292T= GRCh37
NC_000023.9:g.21975213T= NCBI36
NG_007563.2:g.19372T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.738T=
ENST00000683214.1:n.544+14051T=
ENST00000684143.1:c.312T= ENSP00000508264.1:p.Tyr104=
ENST00000379374.5:c.312T= MANE Select ENSP00000368682.4:p.Tyr104=
ENST00000379374.4:c.312T= ENSP00000368682.4:p.Tyr104=
NM_000444.5:c.312T= NP_000435.3:p.Tyr104=
NM_001282754.1:c.312T= NP_001269683.1:p.Tyr104=
XM_011545535.1:c.312T= XP_011543837.1:p.Tyr104=
XM_024452390.1:c.21T= XP_024308158.1:p.Tyr7=
XR_001755695.1:n.991T=
NM_000444.6:c.312T= MANE Select NP_000435.3:p.Tyr104=
NM_001282754.2:c.312T= NP_001269683.1:p.Tyr104=