Canonical Allele Identifier: CA10368350
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 256167
dbSNP Id: rs3752433

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22221603C>T , CM000685.2:g.22221603C>T GRCh38
NC_000023.10:g.22239720C>T , CM000685.1:g.22239720C>T GRCh37
NC_000023.9:g.22149641C>T NCBI36
NG_007563.2:g.193800C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1769-10C>T MANE Select ENSP00000368682.4:p.=
ENST00000379374.4:c.1769-10C>T ENSP00000368682.4:p.=
NM_000444.5:c.1769-10C>T (PHEX) NP_000435.3:p.=
NM_001282754.1:c.1769-10C>T (PHEX) NP_001269683.1:p.=
XM_011545533.1:c.1013-10C>T (PHEX) XP_011543835.1:p.=
XM_011545534.1:c.1013-10C>T (PHEX) XP_011543836.1:p.=
XM_011545536.1:c.662-10C>T (PHEX) XP_011543838.1:p.=
NR_073010.2:n.1048+5867G>A (PTCHD1-AS)
XM_011545536.2:c.662-10C>T (PHEX) XP_011543838.1:p.=
XM_017029579.1:c.1013-10C>T (PHEX) XP_016885068.1:p.=
XM_024452390.1:c.1478-10C>T (PHEX) XP_024308158.1:p.=
XR_001755695.1:n.2609-10C>T (PHEX)
NM_000444.6:c.1769-10C>T (PHEX) MANE Select NP_000435.3:p.=
NM_001282754.2:c.1769-10C>T (PHEX) NP_001269683.1:p.=