Canonical Allele Identifier: CA412567703

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065264C>A (hg19) ; chrX:g.22047146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047146C>A , CM000685.2:g.22047146C>A	GRCh38
NC_000023.10:g.22065264C>A , CM000685.1:g.22065264C>A	GRCh37
NC_000023.9:g.21975185C>A	NCBI36
NG_007563.2:g.19344C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.710C>A
ENST00000683214.1:n.544+14023C>A
ENST00000684143.1:c.284C>A	ENSP00000508264.1:p.Pro95His
ENST00000379374.5:c.284C>A MANE Select	ENSP00000368682.4:p.Pro95His
ENST00000379374.4:c.284C>A	ENSP00000368682.4:p.Pro95His
NM_000444.5:c.284C>A	NP_000435.3:p.Pro95His
NM_001282754.1:c.284C>A	NP_001269683.1:p.Pro95His
XM_011545535.1:c.284C>A	XP_011543837.1:p.Pro95His
XM_024452390.1:c.-8C>A	XP_024308158.1:n.-8C>A
XR_001755695.1:n.963C>A
NM_000444.6:c.284C>A MANE Select	NP_000435.3:p.Pro95His
NM_001282754.2:c.284C>A	NP_001269683.1:p.Pro95His