Canonical Allele Identifier: CA15055731
Gene: PHEX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22142875G>A , CM000685.2:g.22142875G>A GRCh38
NC_000023.10:g.22160992G>A , CM000685.1:g.22160992G>A GRCh37
NC_000023.9:g.22070913G>A NCBI36
NG_007563.2:g.115072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.-43+6210G>A ENSP00000508003.1:n.-43+6210G>A
ENST00000683162.1:c.-43+6210G>A ENSP00000508059.1:n.-43+6210G>A
ENST00000683289.1:c.-43+6054G>A ENSP00000508195.1:n.-43+6054G>A
ENST00000683917.1:n.188+6476G>A
ENST00000684356.1:c.-43+2469G>A ENSP00000507619.1:n.-43+2469G>A
ENST00000684745.1:n.1078+9251G>A
ENST00000379374.5:c.1404+9251G>A MANE Select ENSP00000368682.4:n.1404+9251G>A
ENST00000379374.4:c.1404+9251G>A ENSP00000368682.4:n.1404+9251G>A
NM_000444.5:c.1404+9251G>A NP_000435.3:n.1404+9251G>A
NM_001282754.1:c.1404+9251G>A NP_001269683.1:n.1404+9251G>A
XM_011545533.1:c.648+9251G>A XP_011543835.1:n.648+9251G>A
XM_011545534.1:c.648+9251G>A XP_011543836.1:n.648+9251G>A
XM_011545536.1:c.297+9251G>A XP_011543838.1:n.297+9251G>A
XM_011545536.2:c.297+9251G>A XP_011543838.1:n.297+9251G>A
XM_017029579.1:c.648+9251G>A XP_016885068.1:n.648+9251G>A
XM_024452390.1:c.1113+9251G>A XP_024308158.1:n.1113+9251G>A
XR_001755695.1:n.2244+2469G>A
NM_000444.6:c.1404+9251G>A MANE Select NP_000435.3:n.1404+9251G>A
NM_001282754.2:c.1404+9251G>A NP_001269683.1:n.1404+9251G>A
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