Canonical Allele Identifier: CA2419168582
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096955A= , CM000685.2:g.22096955A= GRCh38
NC_000023.10:g.22115073A= , CM000685.1:g.22115073A= GRCh37
NC_000023.9:g.22024994A= NCBI36
NG_007563.2:g.69153A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1276A=
ENST00000684143.1:c.847A= ENSP00000508264.1:p.Ile283=
ENST00000684745.1:n.524A=
ENST00000379374.5:c.850A= MANE Select ENSP00000368682.4:p.Ile284=
ENST00000379374.4:c.850A= ENSP00000368682.4:p.Ile284=
ENST00000475778.1:n.123A=
NM_000444.5:c.850A= NP_000435.3:p.Ile284=
NM_001282754.1:c.850A= NP_001269683.1:p.Ile284=
XM_011545533.1:c.94A= XP_011543835.1:p.Ile32=
XM_011545534.1:c.94A= XP_011543836.1:p.Ile32=
XM_011545535.1:c.850A= XP_011543837.1:p.Ile284=
XM_017029579.1:c.94A= XP_016885068.1:p.Ile32=
XM_024452390.1:c.559A= XP_024308158.1:p.Ile187=
XR_001755695.1:n.1529A=
NM_000444.6:c.850A= MANE Select NP_000435.3:p.Ile284=
NM_001282754.2:c.850A= NP_001269683.1:p.Ile284=