Canonical Allele Identifier: CA16621340
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 424185
ClinVar RCV Id: RCV002248710
dbSNP Id: rs1064796845
MyVariant Identifiers: chrX:g.22263458C>G (hg19) chrX:g.22245341C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22245341C>G , CM000685.2:g.22245341C>G GRCh38
NC_000023.10:g.22263458C>G , CM000685.1:g.22263458C>G GRCh37
NC_000023.9:g.22173379C>G NCBI36
NG_007563.2:g.217538C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.633C>G (PHEX) ENSP00000508059.1:p.Cys211Trp
ENST00000683289.1:c.624+17730C>G (PHEX) ENSP00000508195.1:n.624+17730C>G
ENST00000683917.1:n.863C>G (PHEX)
ENST00000684356.1:c.633C>G (PHEX) ENSP00000507619.1:p.Cys211Trp
ENST00000684745.1:n.1753C>G (PHEX)
ENST00000379374.5:c.2079C>G (PHEX) MANE Select ENSP00000368682.4:p.Cys693Trp
ENST00000379374.4:c.2079C>G (PHEX) ENSP00000368682.4:p.Cys693Trp
NM_000444.5:c.2079C>G (PHEX) NP_000435.3:p.Cys693Trp
NM_001282754.1:c.2071-2510C>G (PHEX) NP_001269683.1:n.2071-2510C>G
XM_011545533.1:c.1323C>G (PHEX) XP_011543835.1:p.Cys441Trp
XM_011545534.1:c.1323C>G (PHEX) XP_011543836.1:p.Cys441Trp
XM_011545536.1:c.972C>G (PHEX) XP_011543838.1:p.Cys324Trp
XR_950533.1:n.140+8598G>C
XR_950534.1:n.127+8598G>C
NR_073010.2:n.850+8598G>C (PTCHD1-AS)
XM_011545536.2:c.972C>G (PHEX) XP_011543838.1:p.Cys324Trp
XM_017029579.1:c.1323C>G (PHEX) XP_016885068.1:p.Cys441Trp
XM_024452390.1:c.1788C>G (PHEX) XP_024308158.1:p.Cys596Trp
XR_001755695.1:n.2919C>G (PHEX)
NM_000444.6:c.2079C>G (PHEX) MANE Select NP_000435.3:p.Cys693Trp
NM_001282754.2:c.2071-2510C>G (PHEX) NP_001269683.1:n.2071-2510C>G
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