Canonical Allele Identifier: CA412567784

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065300T>G (hg19) ; chrX:g.22047182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047182T>G , CM000685.2:g.22047182T>G	GRCh38
NC_000023.10:g.22065300T>G , CM000685.1:g.22065300T>G	GRCh37
NC_000023.9:g.21975221T>G	NCBI36
NG_007563.2:g.19380T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.746T>G
ENST00000683214.1:n.544+14059T>G
ENST00000684143.1:c.320T>G	ENSP00000508264.1:p.Leu107Arg
ENST00000379374.5:c.320T>G MANE Select	ENSP00000368682.4:p.Leu107Arg
ENST00000379374.4:c.320T>G	ENSP00000368682.4:p.Leu107Arg
NM_000444.5:c.320T>G	NP_000435.3:p.Leu107Arg
NM_001282754.1:c.320T>G	NP_001269683.1:p.Leu107Arg
XM_011545535.1:c.320T>G	XP_011543837.1:p.Leu107Arg
XM_017029579.1:c.-123T>G	XP_016885068.1:n.-123T>G
XM_024452390.1:c.29T>G	XP_024308158.1:p.Leu10Arg
XR_001755695.1:n.999T>G
NM_000444.6:c.320T>G MANE Select	NP_000435.3:p.Leu107Arg
NM_001282754.2:c.320T>G	NP_001269683.1:p.Leu107Arg