Canonical Allele Identifier: CA16609166
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 379848
ClinVar RCV Id: RCV000429437
dbSNP Id: rs1057520756

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219052G>C , CM000685.2:g.22219052G>C GRCh38
NC_000023.10:g.22237169G>C , CM000685.1:g.22237169G>C GRCh37
NC_000023.9:g.22147090G>C NCBI36
NG_007563.2:g.191249G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.271G>C (PHEX) ENSP00000508003.1:p.Ala91Pro
ENST00000683162.1:c.271G>C (PHEX) ENSP00000508059.1:p.Ala91Pro
ENST00000683289.1:c.271G>C (PHEX) ENSP00000508195.1:p.Ala91Pro
ENST00000683917.1:n.501G>C (PHEX)
ENST00000684356.1:c.271G>C (PHEX) ENSP00000507619.1:p.Ala91Pro
ENST00000684745.1:n.1391G>C (PHEX)
ENST00000379374.5:c.1717G>C (PHEX) MANE Select ENSP00000368682.4:p.Ala573Pro
ENST00000379374.4:c.1717G>C (PHEX) ENSP00000368682.4:p.Ala573Pro
NM_000444.5:c.1717G>C (PHEX) NP_000435.3:p.Ala573Pro
NM_001282754.1:c.1717G>C (PHEX) NP_001269683.1:p.Ala573Pro
XM_011545533.1:c.961G>C (PHEX) XP_011543835.1:p.Ala321Pro
XM_011545534.1:c.961G>C (PHEX) XP_011543836.1:p.Ala321Pro
XM_011545536.1:c.610G>C (PHEX) XP_011543838.1:p.Ala204Pro
NR_073010.2:n.1048+8418C>G (PTCHD1-AS)
XM_011545536.2:c.610G>C (PHEX) XP_011543838.1:p.Ala204Pro
XM_017029579.1:c.961G>C (PHEX) XP_016885068.1:p.Ala321Pro
XM_024452390.1:c.1426G>C (PHEX) XP_024308158.1:p.Ala476Pro
XR_001755695.1:n.2557G>C (PHEX)
NM_000444.6:c.1717G>C (PHEX) MANE Select NP_000435.3:p.Ala573Pro
NM_001282754.2:c.1717G>C (PHEX) NP_001269683.1:p.Ala573Pro