Canonical Allele Identifier: CA10603645
Gene: PHEX HGNC NCBI
PHEX-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22168341T>A , CM000685.2:g.22168341T>A GRCh38
NC_000023.10:g.22186458T>A , CM000685.1:g.22186458T>A GRCh37
NC_000023.9:g.22096379T>A NCBI36
NG_007563.2:g.140538T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.-13T>A (PHEX) ENSP00000508003.1:n.-13T>A
ENST00000683162.1:c.-13T>A (PHEX) ENSP00000508059.1:n.-13T>A
ENST00000683289.1:c.-13T>A (PHEX) ENSP00000508195.1:n.-13T>A
ENST00000683917.1:n.218T>A (PHEX)
ENST00000684356.1:c.-13T>A (PHEX) ENSP00000507619.1:n.-13T>A
ENST00000684745.1:n.1108T>A (PHEX)
ENST00000379374.5:c.1434T>A (PHEX) MANE Select ENSP00000368682.4:p.Tyr478Ter
ENST00000379374.4:c.1434T>A (PHEX) ENSP00000368682.4:p.Tyr478Ter
NM_000444.5:c.1434T>A (PHEX) NP_000435.3:p.Tyr478Ter
NM_001282754.1:c.1434T>A (PHEX) NP_001269683.1:p.Tyr478Ter
NR_046639.1:n.1267+1453A>T (PHEX-AS1)
XM_011545533.1:c.678T>A (PHEX) XP_011543835.1:p.Tyr226Ter
XM_011545534.1:c.678T>A (PHEX) XP_011543836.1:p.Tyr226Ter
XM_011545536.1:c.327T>A (PHEX) XP_011543838.1:p.Tyr109Ter
XM_011545536.2:c.327T>A (PHEX) XP_011543838.1:p.Tyr109Ter
XM_017029579.1:c.678T>A (PHEX) XP_016885068.1:p.Tyr226Ter
XM_024452390.1:c.1143T>A (PHEX) XP_024308158.1:p.Tyr381Ter
XR_001755695.1:n.2274T>A (PHEX)
NM_000444.6:c.1434T>A (PHEX) MANE Select NP_000435.3:p.Tyr478Ter
NM_001282754.2:c.1434T>A (PHEX) NP_001269683.1:p.Tyr478Ter