Canonical Allele Identifier: CA412574570
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133541G>C , CM000685.2:g.22133541G>C GRCh38
NC_000023.10:g.22151658G>C , CM000685.1:g.22151658G>C GRCh37
NC_000023.9:g.22061579G>C NCBI36
NG_007563.2:g.105738G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684745.1:n.995G>C
ENST00000379374.5:c.1321G>C MANE Select ENSP00000368682.4:p.Gly441Arg
ENST00000379374.4:c.1321G>C ENSP00000368682.4:p.Gly441Arg
NM_000444.5:c.1321G>C NP_000435.3:p.Gly441Arg
NM_001282754.1:c.1321G>C NP_001269683.1:p.Gly441Arg
XM_011545533.1:c.565G>C XP_011543835.1:p.Gly189Arg
XM_011545534.1:c.565G>C XP_011543836.1:p.Gly189Arg
XM_011545535.1:c.1321G>C XP_011543837.1:p.Gly441Arg
XM_011545536.1:c.214G>C XP_011543838.1:p.Gly72Arg
XM_011545536.2:c.214G>C XP_011543838.1:p.Gly72Arg
XM_017029579.1:c.565G>C XP_016885068.1:p.Gly189Arg
XM_024452390.1:c.1030G>C XP_024308158.1:p.Gly344Arg
XR_001755695.1:n.2000G>C
NM_000444.6:c.1321G>C MANE Select NP_000435.3:p.Gly441Arg
NM_001282754.2:c.1321G>C NP_001269683.1:p.Gly441Arg