Canonical Allele Identifier: CA260504
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 36675
ClinVar RCV Id: RCV000030354
dbSNP Id: rs193922456

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226492T>C , CM000685.2:g.22226492T>C GRCh38
NC_000023.10:g.22244609T>C , CM000685.1:g.22244609T>C GRCh37
NC_000023.9:g.22154530T>C NCBI36
NG_007563.2:g.198689T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1949T>C MANE Select ENSP00000368682.4:p.Leu650Pro
ENST00000379374.4:c.1949T>C ENSP00000368682.4:p.Leu650Pro
NM_000444.5:c.1949T>C (PHEX) NP_000435.3:p.Leu650Pro
NM_001282754.1:c.1949T>C (PHEX) NP_001269683.1:p.Leu650Pro
XM_011545533.1:c.1193T>C (PHEX) XP_011543835.1:p.Leu398Pro
XM_011545534.1:c.1193T>C (PHEX) XP_011543836.1:p.Leu398Pro
XM_011545536.1:c.842T>C (PHEX) XP_011543838.1:p.Leu281Pro
XR_950534.1:n.326-469A>G
NR_073010.2:n.1048+978A>G (PTCHD1-AS)
XM_011545536.2:c.842T>C (PHEX) XP_011543838.1:p.Leu281Pro
XM_017029579.1:c.1193T>C (PHEX) XP_016885068.1:p.Leu398Pro
XM_024452390.1:c.1658T>C (PHEX) XP_024308158.1:p.Leu553Pro
XR_001755695.1:n.2789T>C (PHEX)
NM_000444.6:c.1949T>C (PHEX) MANE Select NP_000435.3:p.Leu650Pro
NM_001282754.2:c.1949T>C (PHEX) NP_001269683.1:p.Leu650Pro