Canonical Allele Identifier: CA255560
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 10819
ClinVar RCV Id: RCV000011566
dbSNP Id: rs137853270

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22212922T>C , CM000685.2:g.22212922T>C GRCh38
NC_000023.10:g.22231039T>C , CM000685.1:g.22231039T>C GRCh37
NC_000023.9:g.22140960T>C NCBI36
NG_007563.2:g.185119T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1664T>C MANE Select ENSP00000368682.4:p.Leu555Pro
ENST00000379374.4:c.1664T>C ENSP00000368682.4:p.Leu555Pro
NM_000444.5:c.1664T>C (PHEX) NP_000435.3:p.Leu555Pro
NM_001282754.1:c.1664T>C (PHEX) NP_001269683.1:p.Leu555Pro
XM_011545533.1:c.908T>C (PHEX) XP_011543835.1:p.Leu303Pro
XM_011545534.1:c.908T>C (PHEX) XP_011543836.1:p.Leu303Pro
XM_011545536.1:c.557T>C (PHEX) XP_011543838.1:p.Leu186Pro
NR_073010.2:n.1049-10152A>G (PTCHD1-AS)
XM_011545536.2:c.557T>C (PHEX) XP_011543838.1:p.Leu186Pro
XM_017029579.1:c.908T>C (PHEX) XP_016885068.1:p.Leu303Pro
XM_024452390.1:c.1373T>C (PHEX) XP_024308158.1:p.Leu458Pro
XR_001755695.1:n.2504T>C (PHEX)
NM_000444.6:c.1664T>C (PHEX) MANE Select NP_000435.3:p.Leu555Pro
NM_001282754.2:c.1664T>C (PHEX) NP_001269683.1:p.Leu555Pro