Canonical Allele Identifier: CA412568143

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065323T>A (hg19) ; chrX:g.22047205T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047205T>A , CM000685.2:g.22047205T>A	GRCh38
NC_000023.10:g.22065323T>A , CM000685.1:g.22065323T>A	GRCh37
NC_000023.9:g.21975244T>A	NCBI36
NG_007563.2:g.19403T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.769T>A
ENST00000683214.1:n.544+14082T>A
ENST00000684143.1:c.343T>A	ENSP00000508264.1:p.Leu115Met
ENST00000379374.5:c.343T>A MANE Select	ENSP00000368682.4:p.Leu115Met
ENST00000379374.4:c.343T>A	ENSP00000368682.4:p.Leu115Met
NM_000444.5:c.343T>A	NP_000435.3:p.Leu115Met
NM_001282754.1:c.343T>A	NP_001269683.1:p.Leu115Met
XM_011545535.1:c.343T>A	XP_011543837.1:p.Leu115Met
XM_017029579.1:c.-100T>A	XP_016885068.1:n.-100T>A
XM_024452390.1:c.52T>A	XP_024308158.1:p.Leu18Met
XR_001755695.1:n.1022T>A
NM_000444.6:c.343T>A MANE Select	NP_000435.3:p.Leu115Met
NM_001282754.2:c.343T>A	NP_001269683.1:p.Leu115Met