Canonical Allele Identifier: CA412563668

Gene: PHEX

Linked Data

• COSMIC: COSM6387777
• MyVariant Identifiers: chrX:g.22051127G>T (hg19) ; chrX:g.22033009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033009G>T , CM000685.2:g.22033009G>T	GRCh38
NC_000023.10:g.22051127G>T , CM000685.1:g.22051127G>T	GRCh37
NC_000023.9:g.21961048G>T	NCBI36
NG_007563.2:g.5207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.430G>T
ENST00000683214.1:n.430G>T
ENST00000684143.1:c.4G>T	ENSP00000508264.1:p.Glu2Ter
ENST00000379374.5:c.4G>T MANE Select	ENSP00000368682.4:p.Glu2Ter
ENST00000379374.4:c.4G>T	ENSP00000368682.4:p.Glu2Ter
NM_000444.5:c.4G>T	NP_000435.3:p.Glu2Ter
NM_001282754.1:c.4G>T	NP_001269683.1:p.Glu2Ter
XM_011545535.1:c.4G>T	XP_011543837.1:p.Glu2Ter
XR_001755695.1:n.683G>T
NM_000444.6:c.4G>T MANE Select	NP_000435.3:p.Glu2Ter
NM_001282754.2:c.4G>T	NP_001269683.1:p.Glu2Ter