Canonical Allele Identifier: CA2693304872
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs2147043516

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096940dup , CM000685.2:g.22096940dup GRCh38
NC_000023.10:g.22115058dup , CM000685.1:g.22115058dup GRCh37
NC_000023.9:g.22024979dup NCBI36
NG_007563.2:g.69138dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1276-15dup
ENST00000684143.1:c.847-15dup ENSP00000508264.1:n.847-15dup
ENST00000684745.1:n.524-15dup
ENST00000379374.5:c.850-15dup MANE Select ENSP00000368682.4:n.850-15dup
ENST00000379374.4:c.850-15dup ENSP00000368682.4:n.850-15dup
ENST00000475778.1:n.123-15dup
NM_000444.5:c.850-15dup NP_000435.3:n.850-15dup
NM_001282754.1:c.850-15dup NP_001269683.1:n.850-15dup
XM_011545533.1:c.94-15dup XP_011543835.1:n.94-15dup
XM_011545534.1:c.94-15dup XP_011543836.1:n.94-15dup
XM_011545535.1:c.850-15dup XP_011543837.1:n.850-15dup
XM_017029579.1:c.94-15dup XP_016885068.1:n.94-15dup
XM_024452390.1:c.559-15dup XP_024308158.1:n.559-15dup
XR_001755695.1:n.1529-15dup
NM_000444.6:c.850-15dup MANE Select NP_000435.3:n.850-15dup
NM_001282754.2:c.850-15dup NP_001269683.1:n.850-15dup