Canonical Allele Identifier: CA1131593402

Gene: PHEX

Linked Data

• dbSNP Id: rs1669307834
• gnomAD v3: X-22046718-C-T
• gnomAD v4: X-22046718-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046718C>T , CM000685.2:g.22046718C>T	GRCh38
NC_000023.10:g.22064836C>T , CM000685.1:g.22064836C>T	GRCh37
NC_000023.9:g.21974757C>T	NCBI36
NG_007563.2:g.18916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-332C>T
ENST00000683214.1:n.544+13595C>T
ENST00000684143.1:c.188-332C>T	ENSP00000508264.1:n.188-332C>T
ENST00000379374.5:c.188-332C>T MANE Select	ENSP00000368682.4:n.188-332C>T
ENST00000379374.4:c.188-332C>T	ENSP00000368682.4:n.188-332C>T
NM_000444.5:c.188-332C>T	NP_000435.3:n.188-332C>T
NM_001282754.1:c.188-332C>T	NP_001269683.1:n.188-332C>T
XM_011545535.1:c.188-332C>T	XP_011543837.1:n.188-332C>T
XM_024452390.1:c.-104-332C>T	XP_024308158.1:n.-104-332C>T
XR_001755695.1:n.867-332C>T
NM_000444.6:c.188-332C>T MANE Select	NP_000435.3:n.188-332C>T
NM_001282754.2:c.188-332C>T	NP_001269683.1:n.188-332C>T