Canonical Allele Identifier: CA412574771
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178281T>G , CM000685.2:g.22178281T>G GRCh38
NC_000023.10:g.22196398T>G , CM000685.1:g.22196398T>G GRCh37
NC_000023.9:g.22106319T>G NCBI36
NG_007563.2:g.150478T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.45T>G ENSP00000508003.1:p.Phe15Leu
ENST00000683162.1:c.45T>G ENSP00000508059.1:p.Phe15Leu
ENST00000683289.1:c.45T>G ENSP00000508195.1:p.Phe15Leu
ENST00000683917.1:n.275T>G
ENST00000684356.1:c.45T>G ENSP00000507619.1:p.Phe15Leu
ENST00000684745.1:n.1165T>G
ENST00000379374.5:c.1491T>G MANE Select ENSP00000368682.4:p.Phe497Leu
ENST00000379374.4:c.1491T>G ENSP00000368682.4:p.Phe497Leu
NM_000444.5:c.1491T>G NP_000435.3:p.Phe497Leu
NM_001282754.1:c.1491T>G NP_001269683.1:p.Phe497Leu
XM_011545533.1:c.735T>G XP_011543835.1:p.Phe245Leu
XM_011545534.1:c.735T>G XP_011543836.1:p.Phe245Leu
XM_011545536.1:c.384T>G XP_011543838.1:p.Phe128Leu
XM_011545536.2:c.384T>G XP_011543838.1:p.Phe128Leu
XM_017029579.1:c.735T>G XP_016885068.1:p.Phe245Leu
XM_024452390.1:c.1200T>G XP_024308158.1:p.Phe400Leu
XR_001755695.1:n.2331T>G
NM_000444.6:c.1491T>G MANE Select NP_000435.3:p.Phe497Leu
NM_001282754.2:c.1491T>G NP_001269683.1:p.Phe497Leu