Canonical Allele Identifier: CA412567668

Gene: PHEX

Linked Data

• dbSNP Id: rs1485018711
• gnomAD v3: X-22047131-G-A
• gnomAD v4: X-22047131-G-A
• MyVariant Identifiers: chrX:g.22065249G>A (hg19) ; chrX:g.22047131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047131G>A , CM000685.2:g.22047131G>A	GRCh38
NC_000023.10:g.22065249G>A , CM000685.1:g.22065249G>A	GRCh37
NC_000023.9:g.21975170G>A	NCBI36
NG_007563.2:g.19329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.695G>A
ENST00000683214.1:n.544+14008G>A
ENST00000684143.1:c.269G>A	ENSP00000508264.1:p.Ser90Asn
ENST00000379374.5:c.269G>A MANE Select	ENSP00000368682.4:p.Ser90Asn
ENST00000379374.4:c.269G>A	ENSP00000368682.4:p.Ser90Asn
NM_000444.5:c.269G>A	NP_000435.3:p.Ser90Asn
NM_001282754.1:c.269G>A	NP_001269683.1:p.Ser90Asn
XM_011545535.1:c.269G>A	XP_011543837.1:p.Ser90Asn
XM_024452390.1:c.-23G>A	XP_024308158.1:n.-23G>A
XR_001755695.1:n.948G>A
NM_000444.6:c.269G>A MANE Select	NP_000435.3:p.Ser90Asn
NM_001282754.2:c.269G>A	NP_001269683.1:p.Ser90Asn