Canonical Allele Identifier: CA2419152216

Gene: PHEX

Linked Data

• dbSNP Id: rs1927545844

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046652C>T , CM000685.2:g.22046652C>T	GRCh38
NC_000023.10:g.22064770C>T , CM000685.1:g.22064770C>T	GRCh37
NC_000023.9:g.21974691C>T	NCBI36
NG_007563.2:g.18850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-398C>T
ENST00000683214.1:n.544+13529C>T
ENST00000684143.1:c.188-398C>T	ENSP00000508264.1:n.188-398C>T
ENST00000379374.5:c.188-398C>T MANE Select	ENSP00000368682.4:n.188-398C>T
ENST00000379374.4:c.188-398C>T	ENSP00000368682.4:n.188-398C>T
NM_000444.5:c.188-398C>T	NP_000435.3:n.188-398C>T
NM_001282754.1:c.188-398C>T	NP_001269683.1:n.188-398C>T
XM_011545535.1:c.188-398C>T	XP_011543837.1:n.188-398C>T
XM_024452390.1:c.-104-398C>T	XP_024308158.1:n.-104-398C>T
XR_001755695.1:n.867-398C>T
NM_000444.6:c.188-398C>T MANE Select	NP_000435.3:n.188-398C>T
NM_001282754.2:c.188-398C>T	NP_001269683.1:n.188-398C>T