Canonical Allele Identifier: CA10603470
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 279873
dbSNP Id: rs886041227
gnomAD v4: X-22247942-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247942C>T , CM000685.2:g.22247942C>T GRCh38
NC_000023.10:g.22266059C>T , CM000685.1:g.22266059C>T GRCh37
NC_000023.9:g.22175980C>T NCBI36
NG_007563.2:g.220139C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.*177C>T (PHEX) ENSP00000508059.1:n.*177C>T
ENST00000683289.1:c.624+20331C>T (PHEX) ENSP00000508195.1:n.624+20331C>T
ENST00000683917.1:n.1023C>T (PHEX)
ENST00000684356.1:c.793C>T (PHEX) ENSP00000507619.1:p.Arg265Ter
ENST00000684745.1:n.1913C>T (PHEX)
ENST00000379374.5:c.2239C>T (PHEX) MANE Select ENSP00000368682.4:p.Arg747Ter
ENST00000379374.4:c.2239C>T (PHEX) ENSP00000368682.4:p.Arg747Ter
NM_000444.5:c.2239C>T (PHEX) NP_000435.3:p.Arg747Ter
NM_001282754.1:c.*74C>T (PHEX) NP_001269683.1:n.*74C>T
XM_011545533.1:c.1483C>T (PHEX) XP_011543835.1:p.Arg495Ter
XM_011545534.1:c.1483C>T (PHEX) XP_011543836.1:p.Arg495Ter
XM_011545536.1:c.1132C>T (PHEX) XP_011543838.1:p.Arg378Ter
XR_950533.1:n.140+5997G>A
XR_950534.1:n.127+5997G>A
NR_073010.2:n.850+5997G>A (PTCHD1-AS)
XM_011545536.2:c.1132C>T (PHEX) XP_011543838.1:p.Arg378Ter
XM_017029579.1:c.1483C>T (PHEX) XP_016885068.1:p.Arg495Ter
XM_024452390.1:c.1948C>T (PHEX) XP_024308158.1:p.Arg650Ter
XR_001755695.1:n.3079C>T (PHEX)
NM_000444.6:c.2239C>T (PHEX) MANE Select NP_000435.3:p.Arg747Ter
NM_001282754.2:c.*74C>T (PHEX) NP_001269683.1:n.*74C>T