Canonical Allele Identifier: CA515431791

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196401A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178284A>C , CM000685.2:g.22178284A>C	GRCh38
NC_000023.10:g.22196401A>C , CM000685.1:g.22196401A>C	GRCh37
NC_000023.9:g.22106322A>C	NCBI36
NG_007563.2:g.150481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.48A>C	ENSP00000508003.1:p.Ser16=
ENST00000683162.1:c.48A>C	ENSP00000508059.1:p.Ser16=
ENST00000683289.1:c.48A>C	ENSP00000508195.1:p.Ser16=
ENST00000683917.1:n.278A>C
ENST00000684356.1:c.48A>C	ENSP00000507619.1:p.Ser16=
ENST00000684745.1:n.1168A>C
ENST00000379374.5:c.1494A>C MANE Select	ENSP00000368682.4:p.Ser498=
ENST00000379374.4:c.1494A>C	ENSP00000368682.4:p.Ser498=
NM_000444.5:c.1494A>C	NP_000435.3:p.Ser498=
NM_001282754.1:c.1494A>C	NP_001269683.1:p.Ser498=
XM_011545533.1:c.738A>C	XP_011543835.1:p.Ser246=
XM_011545534.1:c.738A>C	XP_011543836.1:p.Ser246=
XM_011545536.1:c.387A>C	XP_011543838.1:p.Ser129=
XM_011545536.2:c.387A>C	XP_011543838.1:p.Ser129=
XM_017029579.1:c.738A>C	XP_016885068.1:p.Ser246=
XM_024452390.1:c.1203A>C	XP_024308158.1:p.Ser401=
XR_001755695.1:n.2334A>C
NM_000444.6:c.1494A>C MANE Select	NP_000435.3:p.Ser498=
NM_001282754.2:c.1494A>C	NP_001269683.1:p.Ser498=