Canonical Allele Identifier: CA412574883
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178322A>G , CM000685.2:g.22178322A>G GRCh38
NC_000023.10:g.22196439A>G , CM000685.1:g.22196439A>G GRCh37
NC_000023.9:g.22106360A>G NCBI36
NG_007563.2:g.150519A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.86A>G ENSP00000508003.1:p.Lys29Arg
ENST00000683162.1:c.86A>G ENSP00000508059.1:p.Lys29Arg
ENST00000683289.1:c.86A>G ENSP00000508195.1:p.Lys29Arg
ENST00000683917.1:n.316A>G
ENST00000684356.1:c.86A>G ENSP00000507619.1:p.Lys29Arg
ENST00000684745.1:n.1206A>G
ENST00000379374.5:c.1532A>G MANE Select ENSP00000368682.4:p.Lys511Arg
ENST00000379374.4:c.1532A>G ENSP00000368682.4:p.Lys511Arg
NM_000444.5:c.1532A>G NP_000435.3:p.Lys511Arg
NM_001282754.1:c.1532A>G NP_001269683.1:p.Lys511Arg
XM_011545533.1:c.776A>G XP_011543835.1:p.Lys259Arg
XM_011545534.1:c.776A>G XP_011543836.1:p.Lys259Arg
XM_011545536.1:c.425A>G XP_011543838.1:p.Lys142Arg
XM_011545536.2:c.425A>G XP_011543838.1:p.Lys142Arg
XM_017029579.1:c.776A>G XP_016885068.1:p.Lys259Arg
XM_024452390.1:c.1241A>G XP_024308158.1:p.Lys414Arg
XR_001755695.1:n.2372A>G
NM_000444.6:c.1532A>G MANE Select NP_000435.3:p.Lys511Arg
NM_001282754.2:c.1532A>G NP_001269683.1:p.Lys511Arg