Canonical Allele Identifier: CA515431790

Gene: PHEX

Linked Data

• gnomAD v4: X-22178281-T-C
• MyVariant Identifiers: chrX:g.22196398T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178281T>C , CM000685.2:g.22178281T>C	GRCh38
NC_000023.10:g.22196398T>C , CM000685.1:g.22196398T>C	GRCh37
NC_000023.9:g.22106319T>C	NCBI36
NG_007563.2:g.150478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.45T>C	ENSP00000508003.1:p.Phe15=
ENST00000683162.1:c.45T>C	ENSP00000508059.1:p.Phe15=
ENST00000683289.1:c.45T>C	ENSP00000508195.1:p.Phe15=
ENST00000683917.1:n.275T>C
ENST00000684356.1:c.45T>C	ENSP00000507619.1:p.Phe15=
ENST00000684745.1:n.1165T>C
ENST00000379374.5:c.1491T>C MANE Select	ENSP00000368682.4:p.Phe497=
ENST00000379374.4:c.1491T>C	ENSP00000368682.4:p.Phe497=
NM_000444.5:c.1491T>C	NP_000435.3:p.Phe497=
NM_001282754.1:c.1491T>C	NP_001269683.1:p.Phe497=
XM_011545533.1:c.735T>C	XP_011543835.1:p.Phe245=
XM_011545534.1:c.735T>C	XP_011543836.1:p.Phe245=
XM_011545536.1:c.384T>C	XP_011543838.1:p.Phe128=
XM_011545536.2:c.384T>C	XP_011543838.1:p.Phe128=
XM_017029579.1:c.735T>C	XP_016885068.1:p.Phe245=
XM_024452390.1:c.1200T>C	XP_024308158.1:p.Phe400=
XR_001755695.1:n.2331T>C
NM_000444.6:c.1491T>C MANE Select	NP_000435.3:p.Phe497=
NM_001282754.2:c.1491T>C	NP_001269683.1:p.Phe497=