Canonical Allele Identifier: CA412571620

Gene: PHEX

Linked Data

• ClinVar Variation Id: 438536
• ClinVar RCV Id: RCV000505478
• dbSNP Id: rs771208171
• MyVariant Identifiers: chrX:g.22095778T>G (hg19) ; chrX:g.22077660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077660T>G , CM000685.2:g.22077660T>G	GRCh38
NC_000023.10:g.22095778T>G , CM000685.1:g.22095778T>G	GRCh37
NC_000023.9:g.22005699T>G	NCBI36
NG_007563.2:g.49858T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1047T>G
ENST00000683214.1:n.729T>G
ENST00000684143.1:c.618T>G	ENSP00000508264.1:p.Tyr206Ter
ENST00000684745.1:n.295T>G
ENST00000379374.5:c.621T>G MANE Select	ENSP00000368682.4:p.Tyr207Ter
ENST00000379374.4:c.621T>G	ENSP00000368682.4:p.Tyr207Ter
NM_000444.5:c.621T>G	NP_000435.3:p.Tyr207Ter
NM_001282754.1:c.621T>G	NP_001269683.1:p.Tyr207Ter
XM_011545535.1:c.621T>G	XP_011543837.1:p.Tyr207Ter
XM_017029579.1:c.-93-12769T>G	XP_016885068.1:n.-93-12769T>G
XM_024452390.1:c.330T>G	XP_024308158.1:p.Tyr110Ter
XR_001755695.1:n.1300T>G
NM_000444.6:c.621T>G MANE Select	NP_000435.3:p.Tyr207Ter
NM_001282754.2:c.621T>G	NP_001269683.1:p.Tyr207Ter