Canonical Allele Identifier: CA412567610
Gene: PHEX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.22065222T>A (hg19) chrX:g.22047104T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047104T>A , CM000685.2:g.22047104T>A GRCh38
NC_000023.10:g.22065222T>A , CM000685.1:g.22065222T>A GRCh37
NC_000023.9:g.21975143T>A NCBI36
NG_007563.2:g.19302T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.668T>A
ENST00000683214.1:n.544+13981T>A
ENST00000684143.1:c.242T>A ENSP00000508264.1:p.Phe81Tyr
ENST00000379374.5:c.242T>A MANE Select ENSP00000368682.4:p.Phe81Tyr
ENST00000379374.4:c.242T>A ENSP00000368682.4:p.Phe81Tyr
NM_000444.5:c.242T>A NP_000435.3:p.Phe81Tyr
NM_001282754.1:c.242T>A NP_001269683.1:p.Phe81Tyr
XM_011545535.1:c.242T>A XP_011543837.1:p.Phe81Tyr
XM_024452390.1:c.-50T>A XP_024308158.1:n.-50T>A
XR_001755695.1:n.921T>A
NM_000444.6:c.242T>A MANE Select NP_000435.3:p.Phe81Tyr
NM_001282754.2:c.242T>A NP_001269683.1:p.Phe81Tyr
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