Canonical Allele Identifier: CA2419181234
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs1932095138

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133354A>G , CM000685.2:g.22133354A>G GRCh38
NC_000023.10:g.22151471A>G , CM000685.1:g.22151471A>G GRCh37
NC_000023.9:g.22061392A>G NCBI36
NG_007563.2:g.105551A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684745.1:n.977-169A>G
ENST00000379374.5:c.1303-169A>G MANE Select ENSP00000368682.4:n.1303-169A>G
ENST00000379374.4:c.1303-169A>G ENSP00000368682.4:n.1303-169A>G
NM_000444.5:c.1303-169A>G NP_000435.3:n.1303-169A>G
NM_001282754.1:c.1303-169A>G NP_001269683.1:n.1303-169A>G
XM_011545533.1:c.547-169A>G XP_011543835.1:n.547-169A>G
XM_011545534.1:c.547-169A>G XP_011543836.1:n.547-169A>G
XM_011545535.1:c.1303-169A>G XP_011543837.1:n.1303-169A>G
XM_011545536.1:c.196-169A>G XP_011543838.1:n.196-169A>G
XM_011545536.2:c.196-169A>G XP_011543838.1:n.196-169A>G
XM_017029579.1:c.547-169A>G XP_016885068.1:n.547-169A>G
XM_024452390.1:c.1012-169A>G XP_024308158.1:n.1012-169A>G
XR_001755695.1:n.1982-169A>G
NM_000444.6:c.1303-169A>G MANE Select NP_000435.3:n.1303-169A>G
NM_001282754.2:c.1303-169A>G NP_001269683.1:n.1303-169A>G