Canonical Allele Identifier: CA412574949

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196467G>C (hg19) ; chrX:g.22178350G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178350G>C , CM000685.2:g.22178350G>C	GRCh38
NC_000023.10:g.22196467G>C , CM000685.1:g.22196467G>C	GRCh37
NC_000023.9:g.22106388G>C	NCBI36
NG_007563.2:g.150547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.114G>C	ENSP00000508003.1:p.Trp38Cys
ENST00000683162.1:c.114G>C	ENSP00000508059.1:p.Trp38Cys
ENST00000683289.1:c.114G>C	ENSP00000508195.1:p.Trp38Cys
ENST00000683917.1:n.344G>C
ENST00000684356.1:c.114G>C	ENSP00000507619.1:p.Trp38Cys
ENST00000684745.1:n.1234G>C
ENST00000379374.5:c.1560G>C MANE Select	ENSP00000368682.4:p.Trp520Cys
ENST00000379374.4:c.1560G>C	ENSP00000368682.4:p.Trp520Cys
NM_000444.5:c.1560G>C	NP_000435.3:p.Trp520Cys
NM_001282754.1:c.1560G>C	NP_001269683.1:p.Trp520Cys
XM_011545533.1:c.804G>C	XP_011543835.1:p.Trp268Cys
XM_011545534.1:c.804G>C	XP_011543836.1:p.Trp268Cys
XM_011545536.1:c.453G>C	XP_011543838.1:p.Trp151Cys
XM_011545536.2:c.453G>C	XP_011543838.1:p.Trp151Cys
XM_017029579.1:c.804G>C	XP_016885068.1:p.Trp268Cys
XM_024452390.1:c.1269G>C	XP_024308158.1:p.Trp423Cys
XR_001755695.1:n.2400G>C
NM_000444.6:c.1560G>C MANE Select	NP_000435.3:p.Trp520Cys
NM_001282754.2:c.1560G>C	NP_001269683.1:p.Trp520Cys