Canonical Allele Identifier: CA412574833
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178298T>A , CM000685.2:g.22178298T>A GRCh38
NC_000023.10:g.22196415T>A , CM000685.1:g.22196415T>A GRCh37
NC_000023.9:g.22106336T>A NCBI36
NG_007563.2:g.150495T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.62T>A ENSP00000508003.1:p.Phe21Tyr
ENST00000683162.1:c.62T>A ENSP00000508059.1:p.Phe21Tyr
ENST00000683289.1:c.62T>A ENSP00000508195.1:p.Phe21Tyr
ENST00000683917.1:n.292T>A
ENST00000684356.1:c.62T>A ENSP00000507619.1:p.Phe21Tyr
ENST00000684745.1:n.1182T>A
ENST00000379374.5:c.1508T>A MANE Select ENSP00000368682.4:p.Phe503Tyr
ENST00000379374.4:c.1508T>A ENSP00000368682.4:p.Phe503Tyr
NM_000444.5:c.1508T>A NP_000435.3:p.Phe503Tyr
NM_001282754.1:c.1508T>A NP_001269683.1:p.Phe503Tyr
XM_011545533.1:c.752T>A XP_011543835.1:p.Phe251Tyr
XM_011545534.1:c.752T>A XP_011543836.1:p.Phe251Tyr
XM_011545536.1:c.401T>A XP_011543838.1:p.Phe134Tyr
XM_011545536.2:c.401T>A XP_011543838.1:p.Phe134Tyr
XM_017029579.1:c.752T>A XP_016885068.1:p.Phe251Tyr
XM_024452390.1:c.1217T>A XP_024308158.1:p.Phe406Tyr
XR_001755695.1:n.2348T>A
NM_000444.6:c.1508T>A MANE Select NP_000435.3:p.Phe503Tyr
NM_001282754.2:c.1508T>A NP_001269683.1:p.Phe503Tyr