Canonical Allele Identifier: CA412571442

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22095697G>T (hg19) ; chrX:g.22077579G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077579G>T , CM000685.2:g.22077579G>T	GRCh38
NC_000023.10:g.22095697G>T , CM000685.1:g.22095697G>T	GRCh37
NC_000023.9:g.22005618G>T	NCBI36
NG_007563.2:g.49777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.966G>T
ENST00000683214.1:n.648G>T
ENST00000684143.1:c.537G>T	ENSP00000508264.1:p.Trp179Cys
ENST00000684745.1:n.214G>T
ENST00000379374.5:c.540G>T MANE Select	ENSP00000368682.4:p.Trp180Cys
ENST00000379374.4:c.540G>T	ENSP00000368682.4:p.Trp180Cys
NM_000444.5:c.540G>T	NP_000435.3:p.Trp180Cys
NM_001282754.1:c.540G>T	NP_001269683.1:p.Trp180Cys
XM_011545535.1:c.540G>T	XP_011543837.1:p.Trp180Cys
XM_017029579.1:c.-93-12850G>T	XP_016885068.1:n.-93-12850G>T
XM_024452390.1:c.249G>T	XP_024308158.1:p.Trp83Cys
XR_001755695.1:n.1219G>T
NM_000444.6:c.540G>T MANE Select	NP_000435.3:p.Trp180Cys
NM_001282754.2:c.540G>T	NP_001269683.1:p.Trp180Cys