Canonical Allele Identifier: CA412572583

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22115097A>G (hg19) ; chrX:g.22096979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096979A>G , CM000685.2:g.22096979A>G	GRCh38
NC_000023.10:g.22115097A>G , CM000685.1:g.22115097A>G	GRCh37
NC_000023.9:g.22025018A>G	NCBI36
NG_007563.2:g.69177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1300A>G
ENST00000684143.1:c.871A>G	ENSP00000508264.1:p.Thr291Ala
ENST00000684745.1:n.548A>G
ENST00000379374.5:c.874A>G MANE Select	ENSP00000368682.4:p.Thr292Ala
ENST00000379374.4:c.874A>G	ENSP00000368682.4:p.Thr292Ala
ENST00000475778.1:n.147A>G
NM_000444.5:c.874A>G	NP_000435.3:p.Thr292Ala
NM_001282754.1:c.874A>G	NP_001269683.1:p.Thr292Ala
XM_011545533.1:c.118A>G	XP_011543835.1:p.Thr40Ala
XM_011545534.1:c.118A>G	XP_011543836.1:p.Thr40Ala
XM_011545535.1:c.874A>G	XP_011543837.1:p.Thr292Ala
XM_017029579.1:c.118A>G	XP_016885068.1:p.Thr40Ala
XM_024452390.1:c.583A>G	XP_024308158.1:p.Thr195Ala
XR_001755695.1:n.1553A>G
NM_000444.6:c.874A>G MANE Select	NP_000435.3:p.Thr292Ala
NM_001282754.2:c.874A>G	NP_001269683.1:p.Thr292Ala