Canonical Allele Identifier: CA412574984

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196483C>T (hg19) ; chrX:g.22178366C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178366C>T , CM000685.2:g.22178366C>T	GRCh38
NC_000023.10:g.22196483C>T , CM000685.1:g.22196483C>T	GRCh37
NC_000023.9:g.22106404C>T	NCBI36
NG_007563.2:g.150563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.130C>T	ENSP00000508003.1:p.Pro44Ser
ENST00000683162.1:c.130C>T	ENSP00000508059.1:p.Pro44Ser
ENST00000683289.1:c.130C>T	ENSP00000508195.1:p.Pro44Ser
ENST00000683917.1:n.360C>T
ENST00000684356.1:c.130C>T	ENSP00000507619.1:p.Pro44Ser
ENST00000684745.1:n.1250C>T
ENST00000379374.5:c.1576C>T MANE Select	ENSP00000368682.4:p.Pro526Ser
ENST00000379374.4:c.1576C>T	ENSP00000368682.4:p.Pro526Ser
NM_000444.5:c.1576C>T	NP_000435.3:p.Pro526Ser
NM_001282754.1:c.1576C>T	NP_001269683.1:p.Pro526Ser
XM_011545533.1:c.820C>T	XP_011543835.1:p.Pro274Ser
XM_011545534.1:c.820C>T	XP_011543836.1:p.Pro274Ser
XM_011545536.1:c.469C>T	XP_011543838.1:p.Pro157Ser
XM_011545536.2:c.469C>T	XP_011543838.1:p.Pro157Ser
XM_017029579.1:c.820C>T	XP_016885068.1:p.Pro274Ser
XM_024452390.1:c.1285C>T	XP_024308158.1:p.Pro429Ser
XR_001755695.1:n.2416C>T
NM_000444.6:c.1576C>T MANE Select	NP_000435.3:p.Pro526Ser
NM_001282754.2:c.1576C>T	NP_001269683.1:p.Pro526Ser