Canonical Allele Identifier: CA412571272

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22095615C>A (hg19) ; chrX:g.22077497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077497C>A , CM000685.2:g.22077497C>A	GRCh38
NC_000023.10:g.22095615C>A , CM000685.1:g.22095615C>A	GRCh37
NC_000023.9:g.22005536C>A	NCBI36
NG_007563.2:g.49695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.884C>A
ENST00000683214.1:n.566C>A
ENST00000684143.1:c.455C>A	ENSP00000508264.1:p.Ala152Asp
ENST00000684745.1:n.132C>A
ENST00000379374.5:c.458C>A MANE Select	ENSP00000368682.4:p.Ala153Asp
ENST00000379374.4:c.458C>A	ENSP00000368682.4:p.Ala153Asp
NM_000444.5:c.458C>A	NP_000435.3:p.Ala153Asp
NM_001282754.1:c.458C>A	NP_001269683.1:p.Ala153Asp
XM_011545535.1:c.458C>A	XP_011543837.1:p.Ala153Asp
XM_017029579.1:c.-93-12932C>A	XP_016885068.1:n.-93-12932C>A
XM_024452390.1:c.167C>A	XP_024308158.1:p.Ala56Asp
XR_001755695.1:n.1137C>A
NM_000444.6:c.458C>A MANE Select	NP_000435.3:p.Ala153Asp
NM_001282754.2:c.458C>A	NP_001269683.1:p.Ala153Asp