Canonical Allele Identifier: CA2693304327

Gene: PHEX

Linked Data

• gnomAD v4: X-22076380-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076380C>T , CM000685.2:g.22076380C>T	GRCh38
NC_000023.10:g.22094498C>T , CM000685.1:g.22094498C>T	GRCh37
NC_000023.9:g.22004419C>T	NCBI36
NG_007563.2:g.48578C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.776-8C>T
ENST00000683214.1:n.545-1096C>T
ENST00000684143.1:c.350-8C>T	ENSP00000508264.1:n.350-8C>T
ENST00000684745.1:n.27-8C>T
ENST00000379374.5:c.350-8C>T MANE Select	ENSP00000368682.4:n.350-8C>T
ENST00000379374.4:c.350-8C>T	ENSP00000368682.4:n.350-8C>T
NM_000444.5:c.350-8C>T	NP_000435.3:n.350-8C>T
NM_001282754.1:c.350-8C>T	NP_001269683.1:n.350-8C>T
XM_011545535.1:c.350-8C>T	XP_011543837.1:n.350-8C>T
XM_017029579.1:c.-93-14049C>T	XP_016885068.1:n.-93-14049C>T
XM_024452390.1:c.59-8C>T	XP_024308158.1:n.59-8C>T
XR_001755695.1:n.1029-8C>T
NM_000444.6:c.350-8C>T MANE Select	NP_000435.3:n.350-8C>T
NM_001282754.2:c.350-8C>T	NP_001269683.1:n.350-8C>T