Canonical Allele Identifier: CA412572623

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1075121
• ClinVar RCV Id: RCV001388638
• dbSNP Id: rs2147043669
• MyVariant Identifiers: chrX:g.22115114C>G (hg19) ; chrX:g.22096996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096996C>G , CM000685.2:g.22096996C>G	GRCh38
NC_000023.10:g.22115114C>G , CM000685.1:g.22115114C>G	GRCh37
NC_000023.9:g.22025035C>G	NCBI36
NG_007563.2:g.69194C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1317C>G
ENST00000684143.1:c.888C>G	ENSP00000508264.1:p.Tyr296Ter
ENST00000684745.1:n.565C>G
ENST00000379374.5:c.891C>G MANE Select	ENSP00000368682.4:p.Tyr297Ter
ENST00000379374.4:c.891C>G	ENSP00000368682.4:p.Tyr297Ter
ENST00000475778.1:n.164C>G
NM_000444.5:c.891C>G	NP_000435.3:p.Tyr297Ter
NM_001282754.1:c.891C>G	NP_001269683.1:p.Tyr297Ter
XM_011545533.1:c.135C>G	XP_011543835.1:p.Tyr45Ter
XM_011545534.1:c.135C>G	XP_011543836.1:p.Tyr45Ter
XM_011545535.1:c.891C>G	XP_011543837.1:p.Tyr297Ter
XM_017029579.1:c.135C>G	XP_016885068.1:p.Tyr45Ter
XM_024452390.1:c.600C>G	XP_024308158.1:p.Tyr200Ter
XR_001755695.1:n.1570C>G
NM_000444.6:c.891C>G MANE Select	NP_000435.3:p.Tyr297Ter
NM_001282754.2:c.891C>G	NP_001269683.1:p.Tyr297Ter