Canonical Allele Identifier: CA412572355

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1069276
• ClinVar RCV Id: RCV001381087
• dbSNP Id: rs2147040166
• MyVariant Identifiers: chrX:g.22112147T>G (hg19) ; chrX:g.22094029T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094029T>G , CM000685.2:g.22094029T>G	GRCh38
NC_000023.10:g.22112147T>G , CM000685.1:g.22112147T>G	GRCh37
NC_000023.9:g.22022068T>G	NCBI36
NG_007563.2:g.66227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1205T>G
ENST00000684143.1:c.776T>G	ENSP00000508264.1:p.Leu259Ter
ENST00000684745.1:n.453T>G
ENST00000379374.5:c.779T>G MANE Select	ENSP00000368682.4:p.Leu260Ter
ENST00000379374.4:c.779T>G	ENSP00000368682.4:p.Leu260Ter
ENST00000475778.1:n.52T>G
NM_000444.5:c.779T>G	NP_000435.3:p.Leu260Ter
NM_001282754.1:c.779T>G	NP_001269683.1:p.Leu260Ter
XM_011545533.1:c.23T>G	XP_011543835.1:p.Leu8Ter
XM_011545534.1:c.23T>G	XP_011543836.1:p.Leu8Ter
XM_011545535.1:c.779T>G	XP_011543837.1:p.Leu260Ter
XM_017029579.1:c.23T>G	XP_016885068.1:p.Leu8Ter
XM_024452390.1:c.488T>G	XP_024308158.1:p.Leu163Ter
XR_001755695.1:n.1458T>G
NM_000444.6:c.779T>G MANE Select	NP_000435.3:p.Leu260Ter
NM_001282754.2:c.779T>G	NP_001269683.1:p.Leu260Ter