Canonical Allele Identifier: CA16608814
Gene: PHEX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22077604C>T , CM000685.2:g.22077604C>T GRCh38
NC_000023.10:g.22095722C>T , CM000685.1:g.22095722C>T GRCh37
NC_000023.9:g.22005643C>T NCBI36
NG_007563.2:g.49802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.991C>T
ENST00000683214.1:n.673C>T
ENST00000684143.1:c.562C>T ENSP00000508264.1:p.Gln188Ter
ENST00000684745.1:n.239C>T
ENST00000379374.5:c.565C>T MANE Select ENSP00000368682.4:p.Gln189Ter
ENST00000379374.4:c.565C>T ENSP00000368682.4:p.Gln189Ter
NM_000444.5:c.565C>T NP_000435.3:p.Gln189Ter
NM_001282754.1:c.565C>T NP_001269683.1:p.Gln189Ter
XM_011545535.1:c.565C>T XP_011543837.1:p.Gln189Ter
XM_017029579.1:c.-93-12825C>T XP_016885068.1:n.-93-12825C>T
XM_024452390.1:c.274C>T XP_024308158.1:p.Gln92Ter
XR_001755695.1:n.1244C>T
NM_000444.6:c.565C>T MANE Select NP_000435.3:p.Gln189Ter
NM_001282754.2:c.565C>T NP_001269683.1:p.Gln189Ter
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