Canonical Allele Identifier: CA2419181342
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133624G= , CM000685.2:g.22133624G= GRCh38
NC_000023.10:g.22151741G= , CM000685.1:g.22151741G= GRCh37
NC_000023.9:g.22061662G= NCBI36
NG_007563.2:g.105821G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684745.1:n.1078G=
ENST00000379374.5:c.1404G= MANE Select ENSP00000368682.4:p.Lys468=
ENST00000379374.4:c.1404G= ENSP00000368682.4:p.Lys468=
NM_000444.5:c.1404G= NP_000435.3:p.Lys468=
NM_001282754.1:c.1404G= NP_001269683.1:p.Lys468=
XM_011545533.1:c.648G= XP_011543835.1:p.Lys216=
XM_011545534.1:c.648G= XP_011543836.1:p.Lys216=
XM_011545535.1:c.1404G= XP_011543837.1:p.Lys468=
XM_011545536.1:c.297G= XP_011543838.1:p.Lys99=
XM_011545536.2:c.297G= XP_011543838.1:p.Lys99=
XM_017029579.1:c.648G= XP_016885068.1:p.Lys216=
XM_024452390.1:c.1113G= XP_024308158.1:p.Lys371=
XR_001755695.1:n.2083G=
NM_000444.6:c.1404G= MANE Select NP_000435.3:p.Lys468=
NM_001282754.2:c.1404G= NP_001269683.1:p.Lys468=