Canonical Allele Identifier: CA2517388369
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032979T>A , CM000685.2:g.22032979T>A GRCh38
NC_000023.10:g.22051097T>A , CM000685.1:g.22051097T>A GRCh37
NC_000023.9:g.21961018T>A NCBI36
NG_007563.2:g.5177T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.400T>A
ENST00000683214.1:n.400T>A
ENST00000684143.1:c.-27T>A ENSP00000508264.1:n.-27T>A
ENST00000379374.5:c.-27T>A MANE Select ENSP00000368682.4:n.-27T>A
ENST00000379374.4:c.-27T>A ENSP00000368682.4:n.-27T>A
NM_000444.5:c.-27T>A NP_000435.3:n.-27T>A
NM_001282754.1:c.-27T>A NP_001269683.1:n.-27T>A
XM_011545535.1:c.-27T>A XP_011543837.1:n.-27T>A
XR_001755695.1:n.653T>A
NM_000444.6:c.-27T>A MANE Select NP_000435.3:n.-27T>A
NM_001282754.2:c.-27T>A NP_001269683.1:n.-27T>A