Canonical Allele Identifier: CA16043257
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 373099
ClinVar RCV Id: RCV000412767
dbSNP Id: rs1057518214

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178382T>G , CM000685.2:g.22178382T>G GRCh38
NC_000023.10:g.22196499T>G , CM000685.1:g.22196499T>G GRCh37
NC_000023.9:g.22106420T>G NCBI36
NG_007563.2:g.150579T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.140+6T>G ENSP00000508003.1:n.140+6T>G
ENST00000683162.1:c.140+6T>G ENSP00000508059.1:n.140+6T>G
ENST00000683289.1:c.140+6T>G ENSP00000508195.1:n.140+6T>G
ENST00000683917.1:n.370+6T>G
ENST00000684356.1:c.140+6T>G ENSP00000507619.1:n.140+6T>G
ENST00000684745.1:n.1260+6T>G
ENST00000379374.5:c.1586+6T>G MANE Select ENSP00000368682.4:n.1586+6T>G
ENST00000379374.4:c.1586+6T>G ENSP00000368682.4:n.1586+6T>G
NM_000444.5:c.1586+6T>G NP_000435.3:n.1586+6T>G
NM_001282754.1:c.1586+6T>G NP_001269683.1:n.1586+6T>G
XM_011545533.1:c.830+6T>G XP_011543835.1:n.830+6T>G
XM_011545534.1:c.830+6T>G XP_011543836.1:n.830+6T>G
XM_011545536.1:c.479+6T>G XP_011543838.1:n.479+6T>G
XM_011545536.2:c.479+6T>G XP_011543838.1:n.479+6T>G
XM_017029579.1:c.830+6T>G XP_016885068.1:n.830+6T>G
XM_024452390.1:c.1295+6T>G XP_024308158.1:n.1295+6T>G
XR_001755695.1:n.2426+6T>G
NM_000444.6:c.1586+6T>G MANE Select NP_000435.3:n.1586+6T>G
NM_001282754.2:c.1586+6T>G NP_001269683.1:n.1586+6T>G