Canonical Allele Identifier: CA412567489

Gene: PHEX

Linked Data

• dbSNP Id: rs1927567520
• MyVariant Identifiers: chrX:g.22065170G>A (hg19) ; chrX:g.22047052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047052G>A , CM000685.2:g.22047052G>A	GRCh38
NC_000023.10:g.22065170G>A , CM000685.1:g.22065170G>A	GRCh37
NC_000023.9:g.21975091G>A	NCBI36
NG_007563.2:g.19250G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.616G>A
ENST00000683214.1:n.544+13929G>A
ENST00000684143.1:c.190G>A	ENSP00000508264.1:p.Ala64Thr
ENST00000379374.5:c.190G>A MANE Select	ENSP00000368682.4:p.Ala64Thr
ENST00000379374.4:c.190G>A	ENSP00000368682.4:p.Ala64Thr
NM_000444.5:c.190G>A	NP_000435.3:p.Ala64Thr
NM_001282754.1:c.190G>A	NP_001269683.1:p.Ala64Thr
XM_011545535.1:c.190G>A	XP_011543837.1:p.Ala64Thr
XM_024452390.1:c.-102G>A	XP_024308158.1:n.-102G>A
XR_001755695.1:n.869G>A
NM_000444.6:c.190G>A MANE Select	NP_000435.3:p.Ala64Thr
NM_001282754.2:c.190G>A	NP_001269683.1:p.Ala64Thr