Canonical Allele Identifier: CA412572332

Gene: PHEX

Linked Data

• gnomAD v4: X-22094017-C-T
• MyVariant Identifiers: chrX:g.22112135C>T (hg19) ; chrX:g.22094017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094017C>T , CM000685.2:g.22094017C>T	GRCh38
NC_000023.10:g.22112135C>T , CM000685.1:g.22112135C>T	GRCh37
NC_000023.9:g.22022056C>T	NCBI36
NG_007563.2:g.66215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1193C>T
ENST00000684143.1:c.764C>T	ENSP00000508264.1:p.Thr255Ile
ENST00000684745.1:n.441C>T
ENST00000379374.5:c.767C>T MANE Select	ENSP00000368682.4:p.Thr256Ile
ENST00000379374.4:c.767C>T	ENSP00000368682.4:p.Thr256Ile
ENST00000475778.1:n.40C>T
NM_000444.5:c.767C>T	NP_000435.3:p.Thr256Ile
NM_001282754.1:c.767C>T	NP_001269683.1:p.Thr256Ile
XM_011545533.1:c.11C>T	XP_011543835.1:p.Thr4Ile
XM_011545534.1:c.11C>T	XP_011543836.1:p.Thr4Ile
XM_011545535.1:c.767C>T	XP_011543837.1:p.Thr256Ile
XM_017029579.1:c.11C>T	XP_016885068.1:p.Thr4Ile
XM_024452390.1:c.476C>T	XP_024308158.1:p.Thr159Ile
XR_001755695.1:n.1446C>T
NM_000444.6:c.767C>T MANE Select	NP_000435.3:p.Thr256Ile
NM_001282754.2:c.767C>T	NP_001269683.1:p.Thr256Ile