Canonical Allele Identifier: CA412574805
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178286A>G , CM000685.2:g.22178286A>G GRCh38
NC_000023.10:g.22196403A>G , CM000685.1:g.22196403A>G GRCh37
NC_000023.9:g.22106324A>G NCBI36
NG_007563.2:g.150483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.50A>G ENSP00000508003.1:p.Glu17Gly
ENST00000683162.1:c.50A>G ENSP00000508059.1:p.Glu17Gly
ENST00000683289.1:c.50A>G ENSP00000508195.1:p.Glu17Gly
ENST00000683917.1:n.280A>G
ENST00000684356.1:c.50A>G ENSP00000507619.1:p.Glu17Gly
ENST00000684745.1:n.1170A>G
ENST00000379374.5:c.1496A>G MANE Select ENSP00000368682.4:p.Glu499Gly
ENST00000379374.4:c.1496A>G ENSP00000368682.4:p.Glu499Gly
NM_000444.5:c.1496A>G NP_000435.3:p.Glu499Gly
NM_001282754.1:c.1496A>G NP_001269683.1:p.Glu499Gly
XM_011545533.1:c.740A>G XP_011543835.1:p.Glu247Gly
XM_011545534.1:c.740A>G XP_011543836.1:p.Glu247Gly
XM_011545536.1:c.389A>G XP_011543838.1:p.Glu130Gly
XM_011545536.2:c.389A>G XP_011543838.1:p.Glu130Gly
XM_017029579.1:c.740A>G XP_016885068.1:p.Glu247Gly
XM_024452390.1:c.1205A>G XP_024308158.1:p.Glu402Gly
XR_001755695.1:n.2336A>G
NM_000444.6:c.1496A>G MANE Select NP_000435.3:p.Glu499Gly
NM_001282754.2:c.1496A>G NP_001269683.1:p.Glu499Gly