Canonical Allele Identifier: CA640415434
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1405387326
gnomAD v2: X-22239655-C-T
gnomAD v3: X-22221538-C-T
gnomAD v4: X-22221538-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22221538C>T , CM000685.2:g.22221538C>T GRCh38
NC_000023.10:g.22239655C>T , CM000685.1:g.22239655C>T GRCh37
NC_000023.9:g.22149576C>T NCBI36
NG_007563.2:g.193735C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.323-75C>T (PHEX) ENSP00000508003.1:n.323-75C>T
ENST00000683162.1:c.323-75C>T (PHEX) ENSP00000508059.1:n.323-75C>T
ENST00000683289.1:c.323-75C>T (PHEX) ENSP00000508195.1:n.323-75C>T
ENST00000683917.1:n.553-75C>T (PHEX)
ENST00000684356.1:c.323-75C>T (PHEX) ENSP00000507619.1:n.323-75C>T
ENST00000684745.1:n.1443-75C>T (PHEX)
ENST00000379374.5:c.1769-75C>T (PHEX) MANE Select ENSP00000368682.4:n.1769-75C>T
ENST00000379374.4:c.1769-75C>T (PHEX) ENSP00000368682.4:n.1769-75C>T
NM_000444.5:c.1769-75C>T (PHEX) NP_000435.3:n.1769-75C>T
NM_001282754.1:c.1769-75C>T (PHEX) NP_001269683.1:n.1769-75C>T
XM_011545533.1:c.1013-75C>T (PHEX) XP_011543835.1:n.1013-75C>T
XM_011545534.1:c.1013-75C>T (PHEX) XP_011543836.1:n.1013-75C>T
XM_011545536.1:c.662-75C>T (PHEX) XP_011543838.1:n.662-75C>T
NR_073010.2:n.1048+5932G>A (PTCHD1-AS)
XM_011545536.2:c.662-75C>T (PHEX) XP_011543838.1:n.662-75C>T
XM_017029579.1:c.1013-75C>T (PHEX) XP_016885068.1:n.1013-75C>T
XM_024452390.1:c.1478-75C>T (PHEX) XP_024308158.1:n.1478-75C>T
XR_001755695.1:n.2609-75C>T (PHEX)
NM_000444.6:c.1769-75C>T (PHEX) MANE Select NP_000435.3:n.1769-75C>T
NM_001282754.2:c.1769-75C>T (PHEX) NP_001269683.1:n.1769-75C>T