Canonical Allele Identifier: CA255559
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 10817
ClinVar RCV Id: RCV000011564 RCV001851795
dbSNP Id: rs137853269
gnomAD v4: X-22047116-G-A
MyVariant Identifiers: chrX:g.22065234G>A (hg19) chrX:g.22047116G>A (hg38)
PubMed: PMID:7550339 PMID:9106524
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047116G>A , CM000685.2:g.22047116G>A GRCh38
NC_000023.10:g.22065234G>A , CM000685.1:g.22065234G>A GRCh37
NC_000023.9:g.21975155G>A NCBI36
NG_007563.2:g.19314G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.680G>A
ENST00000683214.1:n.544+13993G>A
ENST00000684143.1:c.254G>A ENSP00000508264.1:p.Cys85Tyr
ENST00000379374.5:c.254G>A MANE Select ENSP00000368682.4:p.Cys85Tyr
ENST00000379374.4:c.254G>A ENSP00000368682.4:p.Cys85Tyr
NM_000444.5:c.254G>A NP_000435.3:p.Cys85Tyr
NM_001282754.1:c.254G>A NP_001269683.1:p.Cys85Tyr
XM_011545535.1:c.254G>A XP_011543837.1:p.Cys85Tyr
XM_024452390.1:c.-38G>A XP_024308158.1:n.-38G>A
XR_001755695.1:n.933G>A
NM_000444.6:c.254G>A MANE Select NP_000435.3:p.Cys85Tyr
NM_001282754.2:c.254G>A NP_001269683.1:p.Cys85Tyr
Search 100 bp 5'
Search 100 bp 3'