Canonical Allele Identifier: CA412571678

Gene: PHEX

Linked Data

• COSMIC: COSM5520769
• MyVariant Identifiers: chrX:g.22095805T>A (hg19) ; chrX:g.22077687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077687T>A , CM000685.2:g.22077687T>A	GRCh38
NC_000023.10:g.22095805T>A , CM000685.1:g.22095805T>A	GRCh37
NC_000023.9:g.22005726T>A	NCBI36
NG_007563.2:g.49885T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1074T>A
ENST00000683214.1:n.756T>A
ENST00000684143.1:c.645T>A	ENSP00000508264.1:p.Asn215Lys
ENST00000684745.1:n.322T>A
ENST00000379374.5:c.648T>A MANE Select	ENSP00000368682.4:p.Asn216Lys
ENST00000379374.4:c.648T>A	ENSP00000368682.4:p.Asn216Lys
NM_000444.5:c.648T>A	NP_000435.3:p.Asn216Lys
NM_001282754.1:c.648T>A	NP_001269683.1:p.Asn216Lys
XM_011545535.1:c.648T>A	XP_011543837.1:p.Asn216Lys
XM_017029579.1:c.-93-12742T>A	XP_016885068.1:n.-93-12742T>A
XM_024452390.1:c.357T>A	XP_024308158.1:p.Asn119Lys
XR_001755695.1:n.1327T>A
NM_000444.6:c.648T>A MANE Select	NP_000435.3:p.Asn216Lys
NM_001282754.2:c.648T>A	NP_001269683.1:p.Asn216Lys