Canonical Allele Identifier: CA412568088

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065311G>T (hg19) ; chrX:g.22047193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047193G>T , CM000685.2:g.22047193G>T	GRCh38
NC_000023.10:g.22065311G>T , CM000685.1:g.22065311G>T	GRCh37
NC_000023.9:g.21975232G>T	NCBI36
NG_007563.2:g.19391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.757G>T
ENST00000683214.1:n.544+14070G>T
ENST00000684143.1:c.331G>T	ENSP00000508264.1:p.Val111Phe
ENST00000379374.5:c.331G>T MANE Select	ENSP00000368682.4:p.Val111Phe
ENST00000379374.4:c.331G>T	ENSP00000368682.4:p.Val111Phe
NM_000444.5:c.331G>T	NP_000435.3:p.Val111Phe
NM_001282754.1:c.331G>T	NP_001269683.1:p.Val111Phe
XM_011545535.1:c.331G>T	XP_011543837.1:p.Val111Phe
XM_017029579.1:c.-112G>T	XP_016885068.1:n.-112G>T
XM_024452390.1:c.40G>T	XP_024308158.1:p.Val14Phe
XR_001755695.1:n.1010G>T
NM_000444.6:c.331G>T MANE Select	NP_000435.3:p.Val111Phe
NM_001282754.2:c.331G>T	NP_001269683.1:p.Val111Phe