Canonical Allele Identifier: CA412571402
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22077562G>C , CM000685.2:g.22077562G>C GRCh38
NC_000023.10:g.22095680G>C , CM000685.1:g.22095680G>C GRCh37
NC_000023.9:g.22005601G>C NCBI36
NG_007563.2:g.49760G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.949G>C
ENST00000683214.1:n.631G>C
ENST00000684143.1:c.520G>C ENSP00000508264.1:p.Gly174Arg
ENST00000684745.1:n.197G>C
ENST00000379374.5:c.523G>C MANE Select ENSP00000368682.4:p.Gly175Arg
ENST00000379374.4:c.523G>C ENSP00000368682.4:p.Gly175Arg
NM_000444.5:c.523G>C NP_000435.3:p.Gly175Arg
NM_001282754.1:c.523G>C NP_001269683.1:p.Gly175Arg
XM_011545535.1:c.523G>C XP_011543837.1:p.Gly175Arg
XM_017029579.1:c.-93-12867G>C XP_016885068.1:n.-93-12867G>C
XM_024452390.1:c.232G>C XP_024308158.1:p.Gly78Arg
XR_001755695.1:n.1202G>C
NM_000444.6:c.523G>C MANE Select NP_000435.3:p.Gly175Arg
NM_001282754.2:c.523G>C NP_001269683.1:p.Gly175Arg