Canonical Allele Identifier: CA16621319
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 424372
ClinVar RCV Id: RCV000481323
dbSNP Id: rs1064796942
MyVariant Identifiers: chrX:g.22129652C>T (hg19) chrX:g.22111534C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22111534C>T , CM000685.2:g.22111534C>T GRCh38
NC_000023.10:g.22129652C>T , CM000685.1:g.22129652C>T GRCh37
NC_000023.9:g.22039573C>T NCBI36
NG_007563.2:g.83732C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1144C>T ENSP00000508264.1:p.Gln382Ter
ENST00000684745.1:n.821C>T
ENST00000379374.5:c.1147C>T MANE Select ENSP00000368682.4:p.Gln383Ter
ENST00000379374.4:c.1147C>T ENSP00000368682.4:p.Gln383Ter
NM_000444.5:c.1147C>T NP_000435.3:p.Gln383Ter
NM_001282754.1:c.1147C>T NP_001269683.1:p.Gln383Ter
XM_011545533.1:c.391C>T XP_011543835.1:p.Gln131Ter
XM_011545534.1:c.391C>T XP_011543836.1:p.Gln131Ter
XM_011545535.1:c.1147C>T XP_011543837.1:p.Gln383Ter
XM_011545536.1:c.40C>T XP_011543838.1:p.Gln14Ter
XM_011545536.2:c.40C>T XP_011543838.1:p.Gln14Ter
XM_017029579.1:c.391C>T XP_016885068.1:p.Gln131Ter
XM_024452390.1:c.856C>T XP_024308158.1:p.Gln286Ter
XR_001755695.1:n.1826C>T
NM_000444.6:c.1147C>T MANE Select NP_000435.3:p.Gln383Ter
NM_001282754.2:c.1147C>T NP_001269683.1:p.Gln383Ter
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