Canonical Allele Identifier: CA16608867
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22212959G>T , CM000685.2:g.22212959G>T GRCh38
NC_000023.10:g.22231076G>T , CM000685.1:g.22231076G>T GRCh37
NC_000023.9:g.22140997G>T NCBI36
NG_007563.2:g.185156G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.254+1G>T (PHEX) ENSP00000508003.1:n.254+1G>T
ENST00000683162.1:c.254+1G>T (PHEX) ENSP00000508059.1:n.254+1G>T
ENST00000683289.1:c.254+1G>T (PHEX) ENSP00000508195.1:n.254+1G>T
ENST00000683917.1:n.484+1G>T (PHEX)
ENST00000684356.1:c.254+1G>T (PHEX) ENSP00000507619.1:n.254+1G>T
ENST00000684745.1:n.1374+1G>T (PHEX)
ENST00000379374.5:c.1700+1G>T (PHEX) MANE Select ENSP00000368682.4:n.1700+1G>T
ENST00000379374.4:c.1700+1G>T (PHEX) ENSP00000368682.4:n.1700+1G>T
NM_000444.5:c.1700+1G>T (PHEX) NP_000435.3:n.1700+1G>T
NM_001282754.1:c.1700+1G>T (PHEX) NP_001269683.1:n.1700+1G>T
XM_011545533.1:c.944+1G>T (PHEX) XP_011543835.1:n.944+1G>T
XM_011545534.1:c.944+1G>T (PHEX) XP_011543836.1:n.944+1G>T
XM_011545536.1:c.593+1G>T (PHEX) XP_011543838.1:n.593+1G>T
NR_073010.2:n.1049-10189C>A (PTCHD1-AS)
XM_011545536.2:c.593+1G>T (PHEX) XP_011543838.1:n.593+1G>T
XM_017029579.1:c.944+1G>T (PHEX) XP_016885068.1:n.944+1G>T
XM_024452390.1:c.1409+1G>T (PHEX) XP_024308158.1:n.1409+1G>T
XR_001755695.1:n.2540+1G>T (PHEX)
NM_000444.6:c.1700+1G>T (PHEX) MANE Select NP_000435.3:n.1700+1G>T
NM_001282754.2:c.1700+1G>T (PHEX) NP_001269683.1:n.1700+1G>T
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