Canonical Allele Identifier: CA10368056

Gene: PHEX

Linked Data

• dbSNP Id: rs777607846
• ExAC: X:22095675 A / G
• gnomAD v2: X-22095675-A-G
• gnomAD v4: X-22077557-A-G
• MyVariant Identifiers: chrX:g.22095675A>G (hg19) ; chrX:g.22077557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077557A>G , CM000685.2:g.22077557A>G	GRCh38
NC_000023.10:g.22095675A>G , CM000685.1:g.22095675A>G	GRCh37
NC_000023.9:g.22005596A>G	NCBI36
NG_007563.2:g.49755A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.944A>G
ENST00000683214.1:n.626A>G
ENST00000684143.1:c.515A>G	ENSP00000508264.1:p.Asn172Ser
ENST00000684745.1:n.192A>G
ENST00000379374.5:c.518A>G MANE Select	ENSP00000368682.4:p.Asn173Ser
ENST00000379374.4:c.518A>G	ENSP00000368682.4:p.Asn173Ser
NM_000444.5:c.518A>G	NP_000435.3:p.Asn173Ser
NM_001282754.1:c.518A>G	NP_001269683.1:p.Asn173Ser
XM_011545535.1:c.518A>G	XP_011543837.1:p.Asn173Ser
XM_017029579.1:c.-93-12872A>G	XP_016885068.1:n.-93-12872A>G
XM_024452390.1:c.227A>G	XP_024308158.1:p.Asn76Ser
XR_001755695.1:n.1197A>G
NM_000444.6:c.518A>G MANE Select	NP_000435.3:p.Asn173Ser
NM_001282754.2:c.518A>G	NP_001269683.1:p.Asn173Ser