Canonical Allele Identifier: CA412572291

Gene: PHEX

Linked Data

• ClinVar Variation Id: 954281
• ClinVar RCV Id: RCV001226716
• dbSNP Id: rs1322662992
• MyVariant Identifiers: chrX:g.22112118C>A (hg19) ; chrX:g.22094000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094000C>A , CM000685.2:g.22094000C>A	GRCh38
NC_000023.10:g.22112118C>A , CM000685.1:g.22112118C>A	GRCh37
NC_000023.9:g.22022039C>A	NCBI36
NG_007563.2:g.66198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1176C>A
ENST00000684143.1:c.747C>A	ENSP00000508264.1:p.Tyr249Ter
ENST00000684745.1:n.424C>A
ENST00000379374.5:c.750C>A MANE Select	ENSP00000368682.4:p.Tyr250Ter
ENST00000379374.4:c.750C>A	ENSP00000368682.4:p.Tyr250Ter
ENST00000475778.1:n.23C>A
NM_000444.5:c.750C>A	NP_000435.3:p.Tyr250Ter
NM_001282754.1:c.750C>A	NP_001269683.1:p.Tyr250Ter
XM_011545533.1:c.-7C>A	XP_011543835.1:n.-7C>A
XM_011545534.1:c.-7C>A	XP_011543836.1:n.-7C>A
XM_011545535.1:c.750C>A	XP_011543837.1:p.Tyr250Ter
XM_017029579.1:c.-7C>A	XP_016885068.1:n.-7C>A
XM_024452390.1:c.459C>A	XP_024308158.1:p.Tyr153Ter
XR_001755695.1:n.1429C>A
NM_000444.6:c.750C>A MANE Select	NP_000435.3:p.Tyr250Ter
NM_001282754.2:c.750C>A	NP_001269683.1:p.Tyr250Ter