Canonical Allele Identifier: CA2419181311
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133543C= , CM000685.2:g.22133543C= GRCh38
NC_000023.10:g.22151660C= , CM000685.1:g.22151660C= GRCh37
NC_000023.9:g.22061581C= NCBI36
NG_007563.2:g.105740C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684745.1:n.997C=
ENST00000379374.5:c.1323C= MANE Select ENSP00000368682.4:p.Gly441=
ENST00000379374.4:c.1323C= ENSP00000368682.4:p.Gly441=
NM_000444.5:c.1323C= NP_000435.3:p.Gly441=
NM_001282754.1:c.1323C= NP_001269683.1:p.Gly441=
XM_011545533.1:c.567C= XP_011543835.1:p.Gly189=
XM_011545534.1:c.567C= XP_011543836.1:p.Gly189=
XM_011545535.1:c.1323C= XP_011543837.1:p.Gly441=
XM_011545536.1:c.216C= XP_011543838.1:p.Gly72=
XM_011545536.2:c.216C= XP_011543838.1:p.Gly72=
XM_017029579.1:c.567C= XP_016885068.1:p.Gly189=
XM_024452390.1:c.1032C= XP_024308158.1:p.Gly344=
XR_001755695.1:n.2002C=
NM_000444.6:c.1323C= MANE Select NP_000435.3:p.Gly441=
NM_001282754.2:c.1323C= NP_001269683.1:p.Gly441=