Canonical Allele Identifier: CA2693307328

Gene: PHEX

Linked Data

• gnomAD v4: X-22178458-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178458C>T , CM000685.2:g.22178458C>T	GRCh38
NC_000023.10:g.22196575C>T , CM000685.1:g.22196575C>T	GRCh37
NC_000023.9:g.22106496C>T	NCBI36
NG_007563.2:g.150655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.140+82C>T	ENSP00000508003.1:n.140+82C>T
ENST00000683162.1:c.140+82C>T	ENSP00000508059.1:n.140+82C>T
ENST00000683289.1:c.140+82C>T	ENSP00000508195.1:n.140+82C>T
ENST00000683917.1:n.370+82C>T
ENST00000684356.1:c.140+82C>T	ENSP00000507619.1:n.140+82C>T
ENST00000684745.1:n.1260+82C>T
ENST00000379374.5:c.1586+82C>T MANE Select	ENSP00000368682.4:n.1586+82C>T
ENST00000379374.4:c.1586+82C>T	ENSP00000368682.4:n.1586+82C>T
NM_000444.5:c.1586+82C>T	NP_000435.3:n.1586+82C>T
NM_001282754.1:c.1586+82C>T	NP_001269683.1:n.1586+82C>T
XM_011545533.1:c.830+82C>T	XP_011543835.1:n.830+82C>T
XM_011545534.1:c.830+82C>T	XP_011543836.1:n.830+82C>T
XM_011545536.1:c.479+82C>T	XP_011543838.1:n.479+82C>T
XM_011545536.2:c.479+82C>T	XP_011543838.1:n.479+82C>T
XM_017029579.1:c.830+82C>T	XP_016885068.1:n.830+82C>T
XM_024452390.1:c.1295+82C>T	XP_024308158.1:n.1295+82C>T
XR_001755695.1:n.2426+82C>T
NM_000444.6:c.1586+82C>T MANE Select	NP_000435.3:n.1586+82C>T
NM_001282754.2:c.1586+82C>T	NP_001269683.1:n.1586+82C>T