Canonical Allele Identifier: CA2419162036

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1953382
• ClinVar RCV Id: RCV002714779
• dbSNP Id: rs1929222225
• gnomAD v4: X-22077722-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077722A>G , CM000685.2:g.22077722A>G	GRCh38
NC_000023.10:g.22095840A>G , CM000685.1:g.22095840A>G	GRCh37
NC_000023.9:g.22005761A>G	NCBI36
NG_007563.2:g.49920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1089+20A>G
ENST00000684143.1:c.660+20A>G	ENSP00000508264.1:n.660+20A>G
ENST00000684745.1:n.337+20A>G
ENST00000379374.5:c.663+20A>G MANE Select	ENSP00000368682.4:n.663+20A>G
ENST00000379374.4:c.663+20A>G	ENSP00000368682.4:n.663+20A>G
NM_000444.5:c.663+20A>G	NP_000435.3:n.663+20A>G
NM_001282754.1:c.663+20A>G	NP_001269683.1:n.663+20A>G
XM_011545535.1:c.663+20A>G	XP_011543837.1:n.663+20A>G
XM_017029579.1:c.-93-12707A>G	XP_016885068.1:n.-93-12707A>G
XM_024452390.1:c.372+20A>G	XP_024308158.1:n.372+20A>G
XR_001755695.1:n.1342+20A>G
NM_000444.6:c.663+20A>G MANE Select	NP_000435.3:n.663+20A>G
NM_001282754.2:c.663+20A>G	NP_001269683.1:n.663+20A>G