Canonical Allele Identifier: CA260506
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 36676
ClinVar RCV Id: RCV000030355
dbSNP Id: rs193922457

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22227540G>T , CM000685.2:g.22227540G>T GRCh38
NC_000023.10:g.22245657G>T , CM000685.1:g.22245657G>T GRCh37
NC_000023.9:g.22155578G>T NCBI36
NG_007563.2:g.199737G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1999G>T MANE Select ENSP00000368682.4:p.Gly667Ter
ENST00000379374.4:c.1999G>T ENSP00000368682.4:p.Gly667Ter
NM_000444.5:c.1999G>T (PHEX) NP_000435.3:p.Gly667Ter
NM_001282754.1:c.1999G>T (PHEX) NP_001269683.1:p.Gly667Ter
XM_011545533.1:c.1243G>T (PHEX) XP_011543835.1:p.Gly415Ter
XM_011545534.1:c.1243G>T (PHEX) XP_011543836.1:p.Gly415Ter
XM_011545536.1:c.892G>T (PHEX) XP_011543838.1:p.Gly298Ter
XR_950534.1:n.255C>A
NR_073010.2:n.978C>A (PTCHD1-AS)
XM_011545536.2:c.892G>T (PHEX) XP_011543838.1:p.Gly298Ter
XM_017029579.1:c.1243G>T (PHEX) XP_016885068.1:p.Gly415Ter
XM_024452390.1:c.1708G>T (PHEX) XP_024308158.1:p.Gly570Ter
XR_001755695.1:n.2839G>T (PHEX)
NM_000444.6:c.1999G>T (PHEX) MANE Select NP_000435.3:p.Gly667Ter
NM_001282754.2:c.1999G>T (PHEX) NP_001269683.1:p.Gly667Ter