Canonical Allele Identifier: CA412571603
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 427089
ClinVar RCV Id: RCV000489507
dbSNP Id: rs1085307950
MyVariant Identifiers: chrX:g.22095768T>A (hg19) chrX:g.22077650T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22077650T>A , CM000685.2:g.22077650T>A GRCh38
NC_000023.10:g.22095768T>A , CM000685.1:g.22095768T>A GRCh37
NC_000023.9:g.22005689T>A NCBI36
NG_007563.2:g.49848T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1037T>A
ENST00000683214.1:n.719T>A
ENST00000684143.1:c.608T>A ENSP00000508264.1:p.Ile203Asn
ENST00000684745.1:n.285T>A
ENST00000379374.5:c.611T>A MANE Select ENSP00000368682.4:p.Ile204Asn
ENST00000379374.4:c.611T>A ENSP00000368682.4:p.Ile204Asn
NM_000444.5:c.611T>A NP_000435.3:p.Ile204Asn
NM_001282754.1:c.611T>A NP_001269683.1:p.Ile204Asn
XM_011545535.1:c.611T>A XP_011543837.1:p.Ile204Asn
XM_017029579.1:c.-93-12779T>A XP_016885068.1:n.-93-12779T>A
XM_024452390.1:c.320T>A XP_024308158.1:p.Ile107Asn
XR_001755695.1:n.1290T>A
NM_000444.6:c.611T>A MANE Select NP_000435.3:p.Ile204Asn
NM_001282754.2:c.611T>A NP_001269683.1:p.Ile204Asn
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