Canonical Allele Identifier: CA412564174
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22033082T>G , CM000685.2:g.22033082T>G GRCh38
NC_000023.10:g.22051200T>G , CM000685.1:g.22051200T>G GRCh37
NC_000023.9:g.21961121T>G NCBI36
NG_007563.2:g.5280T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.503T>G
ENST00000683214.1:n.503T>G
ENST00000684143.1:c.77T>G ENSP00000508264.1:p.Phe26Cys
ENST00000379374.5:c.77T>G MANE Select ENSP00000368682.4:p.Phe26Cys
ENST00000379374.4:c.77T>G ENSP00000368682.4:p.Phe26Cys
NM_000444.5:c.77T>G NP_000435.3:p.Phe26Cys
NM_001282754.1:c.77T>G NP_001269683.1:p.Phe26Cys
XM_011545535.1:c.77T>G XP_011543837.1:p.Phe26Cys
XR_001755695.1:n.756T>G
NM_000444.6:c.77T>G MANE Select NP_000435.3:p.Phe26Cys
NM_001282754.2:c.77T>G NP_001269683.1:p.Phe26Cys