Canonical Allele Identifier: CA10653876

Gene: PHEX

Linked Data

• ClinVar Variation Id: 368160
• ClinVar RCV Id: RCV000367901
• dbSNP Id: rs1057515842
• gnomAD v4: X-22047147-C-G
• MyVariant Identifiers: chrX:g.22065265C>G (hg19) ; chrX:g.22047147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047147C>G , CM000685.2:g.22047147C>G	GRCh38
NC_000023.10:g.22065265C>G , CM000685.1:g.22065265C>G	GRCh37
NC_000023.9:g.21975186C>G	NCBI36
NG_007563.2:g.19345C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.711C>G
ENST00000683214.1:n.544+14024C>G
ENST00000684143.1:c.285C>G	ENSP00000508264.1:p.Pro95=
ENST00000379374.5:c.285C>G MANE Select	ENSP00000368682.4:p.Pro95=
ENST00000379374.4:c.285C>G	ENSP00000368682.4:p.Pro95=
NM_000444.5:c.285C>G	NP_000435.3:p.Pro95=
NM_001282754.1:c.285C>G	NP_001269683.1:p.Pro95=
XM_011545535.1:c.285C>G	XP_011543837.1:p.Pro95=
XM_024452390.1:c.-7C>G	XP_024308158.1:n.-7C>G
XR_001755695.1:n.964C>G
NM_000444.6:c.285C>G MANE Select	NP_000435.3:p.Pro95=
NM_001282754.2:c.285C>G	NP_001269683.1:p.Pro95=