Canonical Allele Identifier: CA412567740

Gene: PHEX

Linked Data

• gnomAD v4: X-22047162-C-A
• MyVariant Identifiers: chrX:g.22065280C>A (hg19) ; chrX:g.22047162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047162C>A , CM000685.2:g.22047162C>A	GRCh38
NC_000023.10:g.22065280C>A , CM000685.1:g.22065280C>A	GRCh37
NC_000023.9:g.21975201C>A	NCBI36
NG_007563.2:g.19360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.726C>A
ENST00000683214.1:n.544+14039C>A
ENST00000684143.1:c.300C>A	ENSP00000508264.1:p.Ser100Arg
ENST00000379374.5:c.300C>A MANE Select	ENSP00000368682.4:p.Ser100Arg
ENST00000379374.4:c.300C>A	ENSP00000368682.4:p.Ser100Arg
NM_000444.5:c.300C>A	NP_000435.3:p.Ser100Arg
NM_001282754.1:c.300C>A	NP_001269683.1:p.Ser100Arg
XM_011545535.1:c.300C>A	XP_011543837.1:p.Ser100Arg
XM_024452390.1:c.9C>A	XP_024308158.1:p.Ser3Arg
XR_001755695.1:n.979C>A
NM_000444.6:c.300C>A MANE Select	NP_000435.3:p.Ser100Arg
NM_001282754.2:c.300C>A	NP_001269683.1:p.Ser100Arg