Canonical Allele Identifier: CA412573444
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22221619A>C , CM000685.2:g.22221619A>C GRCh38
NC_000023.10:g.22239736A>C , CM000685.1:g.22239736A>C GRCh37
NC_000023.9:g.22149657A>C NCBI36
NG_007563.2:g.193816A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.329A>C (PHEX) ENSP00000508003.1:p.Lys110Thr
ENST00000683162.1:c.329A>C (PHEX) ENSP00000508059.1:p.Lys110Thr
ENST00000683289.1:c.329A>C (PHEX) ENSP00000508195.1:p.Lys110Thr
ENST00000683917.1:n.559A>C (PHEX)
ENST00000684356.1:c.329A>C (PHEX) ENSP00000507619.1:p.Lys110Thr
ENST00000684745.1:n.1449A>C (PHEX)
ENST00000379374.5:c.1775A>C (PHEX) MANE Select ENSP00000368682.4:p.Lys592Thr
ENST00000379374.4:c.1775A>C (PHEX) ENSP00000368682.4:p.Lys592Thr
NM_000444.5:c.1775A>C (PHEX) NP_000435.3:p.Lys592Thr
NM_001282754.1:c.1775A>C (PHEX) NP_001269683.1:p.Lys592Thr
XM_011545533.1:c.1019A>C (PHEX) XP_011543835.1:p.Lys340Thr
XM_011545534.1:c.1019A>C (PHEX) XP_011543836.1:p.Lys340Thr
XM_011545536.1:c.668A>C (PHEX) XP_011543838.1:p.Lys223Thr
NR_073010.2:n.1048+5851T>G (PTCHD1-AS)
XM_011545536.2:c.668A>C (PHEX) XP_011543838.1:p.Lys223Thr
XM_017029579.1:c.1019A>C (PHEX) XP_016885068.1:p.Lys340Thr
XM_024452390.1:c.1484A>C (PHEX) XP_024308158.1:p.Lys495Thr
XR_001755695.1:n.2615A>C (PHEX)
NM_000444.6:c.1775A>C (PHEX) MANE Select NP_000435.3:p.Lys592Thr
NM_001282754.2:c.1775A>C (PHEX) NP_001269683.1:p.Lys592Thr