Canonical Allele Identifier: CA260508
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36677
ClinVar RCV Id: RCV000030356
dbSNP Id: rs193922458

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047180G>A , CM000685.2:g.22047180G>A GRCh38
NC_000023.10:g.22065298G>A , CM000685.1:g.22065298G>A GRCh37
NC_000023.9:g.21975219G>A NCBI36
NG_007563.2:g.19378G>A

Transcript Alleles

HGVS Amino-acid change
NM_000444.5:c.318G>A VV NP_000435.3:p.Trp106Ter
NM_001282754.1:c.318G>A VV NP_001269683.1:p.Trp106Ter
XM_011545535.1:c.318G>A XP_011543837.1:p.Trp106Ter
XM_017029579.1:c.-125G>A XP_016885068.1:p.=
XM_024452390.1:c.27G>A XP_024308158.1:p.Trp9Ter
XR_001755695.1:n.997G>A
NM_000444.6:c.318G>A VV MANE Preferred
ENST00000379374.4:c.318G>A ENSP00000368682.4:p.Trp106Ter