Canonical Allele Identifier: CA412568110

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065316C>G (hg19) ; chrX:g.22047198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047198C>G , CM000685.2:g.22047198C>G	GRCh38
NC_000023.10:g.22065316C>G , CM000685.1:g.22065316C>G	GRCh37
NC_000023.9:g.21975237C>G	NCBI36
NG_007563.2:g.19396C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.762C>G
ENST00000683214.1:n.544+14075C>G
ENST00000684143.1:c.336C>G	ENSP00000508264.1:p.Asp112Glu
ENST00000379374.5:c.336C>G MANE Select	ENSP00000368682.4:p.Asp112Glu
ENST00000379374.4:c.336C>G	ENSP00000368682.4:p.Asp112Glu
NM_000444.5:c.336C>G	NP_000435.3:p.Asp112Glu
NM_001282754.1:c.336C>G	NP_001269683.1:p.Asp112Glu
XM_011545535.1:c.336C>G	XP_011543837.1:p.Asp112Glu
XM_017029579.1:c.-107C>G	XP_016885068.1:n.-107C>G
XM_024452390.1:c.45C>G	XP_024308158.1:p.Asp15Glu
XR_001755695.1:n.1015C>G
NM_000444.6:c.336C>G MANE Select	NP_000435.3:p.Asp112Glu
NM_001282754.2:c.336C>G	NP_001269683.1:p.Asp112Glu