Canonical Allele Identifier: CA412572319

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112129T>G (hg19) ; chrX:g.22094011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094011T>G , CM000685.2:g.22094011T>G	GRCh38
NC_000023.10:g.22112129T>G , CM000685.1:g.22112129T>G	GRCh37
NC_000023.9:g.22022050T>G	NCBI36
NG_007563.2:g.66209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1187T>G
ENST00000684143.1:c.758T>G	ENSP00000508264.1:p.Val253Gly
ENST00000684745.1:n.435T>G
ENST00000379374.5:c.761T>G MANE Select	ENSP00000368682.4:p.Val254Gly
ENST00000379374.4:c.761T>G	ENSP00000368682.4:p.Val254Gly
ENST00000475778.1:n.34T>G
NM_000444.5:c.761T>G	NP_000435.3:p.Val254Gly
NM_001282754.1:c.761T>G	NP_001269683.1:p.Val254Gly
XM_011545533.1:c.5T>G	XP_011543835.1:p.Val2Gly
XM_011545534.1:c.5T>G	XP_011543836.1:p.Val2Gly
XM_011545535.1:c.761T>G	XP_011543837.1:p.Val254Gly
XM_017029579.1:c.5T>G	XP_016885068.1:p.Val2Gly
XM_024452390.1:c.470T>G	XP_024308158.1:p.Val157Gly
XR_001755695.1:n.1440T>G
NM_000444.6:c.761T>G MANE Select	NP_000435.3:p.Val254Gly
NM_001282754.2:c.761T>G	NP_001269683.1:p.Val254Gly