Canonical Allele Identifier: CA16043265
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 372463
ClinVar RCV Id: RCV000413865
dbSNP Id: rs1057517797

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22227616G>C , CM000685.2:g.22227616G>C GRCh38
NC_000023.10:g.22245733G>C , CM000685.1:g.22245733G>C GRCh37
NC_000023.9:g.22155654G>C NCBI36
NG_007563.2:g.199813G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.624+5G>C (PHEX) ENSP00000508059.1:n.624+5G>C
ENST00000683289.1:c.624+5G>C (PHEX) ENSP00000508195.1:n.624+5G>C
ENST00000683917.1:n.854+5G>C (PHEX)
ENST00000684356.1:c.624+5G>C (PHEX) ENSP00000507619.1:n.624+5G>C
ENST00000684745.1:n.1744+5G>C (PHEX)
ENST00000379374.5:c.2070+5G>C (PHEX) MANE Select ENSP00000368682.4:n.2070+5G>C
ENST00000379374.4:c.2070+5G>C (PHEX) ENSP00000368682.4:n.2070+5G>C
NM_000444.5:c.2070+5G>C (PHEX) NP_000435.3:n.2070+5G>C
NM_001282754.1:c.2070+5G>C (PHEX) NP_001269683.1:n.2070+5G>C
XM_011545533.1:c.1314+5G>C (PHEX) XP_011543835.1:n.1314+5G>C
XM_011545534.1:c.1314+5G>C (PHEX) XP_011543836.1:n.1314+5G>C
XM_011545536.1:c.963+5G>C (PHEX) XP_011543838.1:n.963+5G>C
XR_950533.1:n.319C>G
XR_950534.1:n.179C>G
NR_073010.2:n.902C>G (PTCHD1-AS)
XM_011545536.2:c.963+5G>C (PHEX) XP_011543838.1:n.963+5G>C
XM_017029579.1:c.1314+5G>C (PHEX) XP_016885068.1:n.1314+5G>C
XM_024452390.1:c.1779+5G>C (PHEX) XP_024308158.1:n.1779+5G>C
XR_001755695.1:n.2910+5G>C (PHEX)
NM_000444.6:c.2070+5G>C (PHEX) MANE Select NP_000435.3:n.2070+5G>C
NM_001282754.2:c.2070+5G>C (PHEX) NP_001269683.1:n.2070+5G>C