Canonical Allele Identifier: CA16043306
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372453
ClinVar RCV Id: RCV000414149
dbSNP Id: rs1057517790
MyVariant Identifiers: chrX:g.22095660C>T (hg19) chrX:g.22077542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22077542C>T , CM000685.2:g.22077542C>T GRCh38
NC_000023.10:g.22095660C>T , CM000685.1:g.22095660C>T GRCh37
NC_000023.9:g.22005581C>T NCBI36
NG_007563.2:g.49740C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.929C>T
ENST00000683214.1:n.611C>T
ENST00000684143.1:c.500C>T ENSP00000508264.1:p.Pro167Leu
ENST00000684745.1:n.177C>T
ENST00000379374.5:c.503C>T MANE Select ENSP00000368682.4:p.Pro168Leu
ENST00000379374.4:c.503C>T ENSP00000368682.4:p.Pro168Leu
NM_000444.5:c.503C>T NP_000435.3:p.Pro168Leu
NM_001282754.1:c.503C>T NP_001269683.1:p.Pro168Leu
XM_011545535.1:c.503C>T XP_011543837.1:p.Pro168Leu
XM_017029579.1:c.-93-12887C>T XP_016885068.1:n.-93-12887C>T
XM_024452390.1:c.212C>T XP_024308158.1:p.Pro71Leu
XR_001755695.1:n.1182C>T
NM_000444.6:c.503C>T MANE Select NP_000435.3:p.Pro168Leu
NM_001282754.2:c.503C>T NP_001269683.1:p.Pro168Leu
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