Canonical Allele Identifier: CA515423854

Gene: PHEX

Linked Data

• COSMIC: COSM5640957
• MyVariant Identifiers: chrX:g.22051195C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033077C>A , CM000685.2:g.22033077C>A	GRCh38
NC_000023.10:g.22051195C>A , CM000685.1:g.22051195C>A	GRCh37
NC_000023.9:g.21961116C>A	NCBI36
NG_007563.2:g.5275C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.498C>A
ENST00000683214.1:n.498C>A
ENST00000684143.1:c.72C>A	ENSP00000508264.1:p.Val24=
ENST00000379374.5:c.72C>A MANE Select	ENSP00000368682.4:p.Val24=
ENST00000379374.4:c.72C>A	ENSP00000368682.4:p.Val24=
NM_000444.5:c.72C>A	NP_000435.3:p.Val24=
NM_001282754.1:c.72C>A	NP_001269683.1:p.Val24=
XM_011545535.1:c.72C>A	XP_011543837.1:p.Val24=
XR_001755695.1:n.751C>A
NM_000444.6:c.72C>A MANE Select	NP_000435.3:p.Val24=
NM_001282754.2:c.72C>A	NP_001269683.1:p.Val24=