Canonical Allele Identifier: CA412564138

Gene: PHEX

Linked Data

• gnomAD v4: X-22033075-G-A
• MyVariant Identifiers: chrX:g.22051193G>A (hg19) ; chrX:g.22033075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033075G>A , CM000685.2:g.22033075G>A	GRCh38
NC_000023.10:g.22051193G>A , CM000685.1:g.22051193G>A	GRCh37
NC_000023.9:g.21961114G>A	NCBI36
NG_007563.2:g.5273G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.496G>A
ENST00000683214.1:n.496G>A
ENST00000684143.1:c.70G>A	ENSP00000508264.1:p.Val24Ile
ENST00000379374.5:c.70G>A MANE Select	ENSP00000368682.4:p.Val24Ile
ENST00000379374.4:c.70G>A	ENSP00000368682.4:p.Val24Ile
NM_000444.5:c.70G>A	NP_000435.3:p.Val24Ile
NM_001282754.1:c.70G>A	NP_001269683.1:p.Val24Ile
XM_011545535.1:c.70G>A	XP_011543837.1:p.Val24Ile
XR_001755695.1:n.749G>A
NM_000444.6:c.70G>A MANE Select	NP_000435.3:p.Val24Ile
NM_001282754.2:c.70G>A	NP_001269683.1:p.Val24Ile