Canonical Allele Identifier: CA515424251

Gene: PHEX

Linked Data

• gnomAD v4: X-22047057-C-A
• MyVariant Identifiers: chrX:g.22065175C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047057C>A , CM000685.2:g.22047057C>A	GRCh38
NC_000023.10:g.22065175C>A , CM000685.1:g.22065175C>A	GRCh37
NC_000023.9:g.21975096C>A	NCBI36
NG_007563.2:g.19255C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.621C>A
ENST00000683214.1:n.544+13934C>A
ENST00000684143.1:c.195C>A	ENSP00000508264.1:p.Ala65=
ENST00000379374.5:c.195C>A MANE Select	ENSP00000368682.4:p.Ala65=
ENST00000379374.4:c.195C>A	ENSP00000368682.4:p.Ala65=
NM_000444.5:c.195C>A	NP_000435.3:p.Ala65=
NM_001282754.1:c.195C>A	NP_001269683.1:p.Ala65=
XM_011545535.1:c.195C>A	XP_011543837.1:p.Ala65=
XM_024452390.1:c.-97C>A	XP_024308158.1:n.-97C>A
XR_001755695.1:n.874C>A
NM_000444.6:c.195C>A MANE Select	NP_000435.3:p.Ala65=
NM_001282754.2:c.195C>A	NP_001269683.1:p.Ala65=