Canonical Allele Identifier: CA10367950
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 1987440
ClinVar RCV Id: RCV002775987
dbSNP Id: rs781538001
ExAC: X:22051113 C / T
gnomAD v2: X-22051113-C-T
gnomAD v4: X-22032995-C-T
MyVariant Identifiers: chrX:g.22051113C>T (hg19) chrX:g.22032995C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032995C>T , CM000685.2:g.22032995C>T GRCh38
NC_000023.10:g.22051113C>T , CM000685.1:g.22051113C>T GRCh37
NC_000023.9:g.21961034C>T NCBI36
NG_007563.2:g.5193C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.416C>T
ENST00000683214.1:n.416C>T
ENST00000684143.1:c.-11C>T ENSP00000508264.1:n.-11C>T
ENST00000379374.5:c.-11C>T MANE Select ENSP00000368682.4:n.-11C>T
ENST00000379374.4:c.-11C>T ENSP00000368682.4:n.-11C>T
NM_000444.5:c.-11C>T NP_000435.3:n.-11C>T
NM_001282754.1:c.-11C>T NP_001269683.1:n.-11C>T
XM_011545535.1:c.-11C>T XP_011543837.1:n.-11C>T
XR_001755695.1:n.669C>T
NM_000444.6:c.-11C>T MANE Select NP_000435.3:n.-11C>T
NM_001282754.2:c.-11C>T NP_001269683.1:n.-11C>T
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