Canonical Allele Identifier: CA2419152398
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047212G= , CM000685.2:g.22047212G= GRCh38
NC_000023.10:g.22065330G= , CM000685.1:g.22065330G= GRCh37
NC_000023.9:g.21975251G= NCBI36
NG_007563.2:g.19410G=

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.775+1G=
ENST00000683214.1:n.544+14089G=
ENST00000684143.1:c.349+1G= ENSP00000508264.1:n.349+1G=
ENST00000379374.5:c.349+1G= MANE Select ENSP00000368682.4:n.349+1G=
ENST00000379374.4:c.349+1G= ENSP00000368682.4:n.349+1G=
NM_000444.5:c.349+1G= NP_000435.3:n.349+1G=
NM_001282754.1:c.349+1G= NP_001269683.1:n.349+1G=
XM_011545535.1:c.349+1G= XP_011543837.1:n.349+1G=
XM_017029579.1:c.-94+1G= XP_016885068.1:n.-94+1G=
XM_024452390.1:c.58+1G= XP_024308158.1:n.58+1G=
XR_001755695.1:n.1028+1G=
NM_000444.6:c.349+1G= MANE Select NP_000435.3:n.349+1G=
NM_001282754.2:c.349+1G= NP_001269683.1:n.349+1G=