Canonical Allele Identifier: CA412574871
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178315A>C , CM000685.2:g.22178315A>C GRCh38
NC_000023.10:g.22196432A>C , CM000685.1:g.22196432A>C GRCh37
NC_000023.9:g.22106353A>C NCBI36
NG_007563.2:g.150512A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.79A>C ENSP00000508003.1:p.Thr27Pro
ENST00000683162.1:c.79A>C ENSP00000508059.1:p.Thr27Pro
ENST00000683289.1:c.79A>C ENSP00000508195.1:p.Thr27Pro
ENST00000683917.1:n.309A>C
ENST00000684356.1:c.79A>C ENSP00000507619.1:p.Thr27Pro
ENST00000684745.1:n.1199A>C
ENST00000379374.5:c.1525A>C MANE Select ENSP00000368682.4:p.Thr509Pro
ENST00000379374.4:c.1525A>C ENSP00000368682.4:p.Thr509Pro
NM_000444.5:c.1525A>C NP_000435.3:p.Thr509Pro
NM_001282754.1:c.1525A>C NP_001269683.1:p.Thr509Pro
XM_011545533.1:c.769A>C XP_011543835.1:p.Thr257Pro
XM_011545534.1:c.769A>C XP_011543836.1:p.Thr257Pro
XM_011545536.1:c.418A>C XP_011543838.1:p.Thr140Pro
XM_011545536.2:c.418A>C XP_011543838.1:p.Thr140Pro
XM_017029579.1:c.769A>C XP_016885068.1:p.Thr257Pro
XM_024452390.1:c.1234A>C XP_024308158.1:p.Thr412Pro
XR_001755695.1:n.2365A>C
NM_000444.6:c.1525A>C MANE Select NP_000435.3:p.Thr509Pro
NM_001282754.2:c.1525A>C NP_001269683.1:p.Thr509Pro