Canonical Allele Identifier: CA412574749
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178277A>T , CM000685.2:g.22178277A>T GRCh38
NC_000023.10:g.22196394A>T , CM000685.1:g.22196394A>T GRCh37
NC_000023.9:g.22106315A>T NCBI36
NG_007563.2:g.150474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.41A>T ENSP00000508003.1:p.Lys14Met
ENST00000683162.1:c.41A>T ENSP00000508059.1:p.Lys14Met
ENST00000683289.1:c.41A>T ENSP00000508195.1:p.Lys14Met
ENST00000683917.1:n.271A>T
ENST00000684356.1:c.41A>T ENSP00000507619.1:p.Lys14Met
ENST00000684745.1:n.1161A>T
ENST00000379374.5:c.1487A>T MANE Select ENSP00000368682.4:p.Lys496Met
ENST00000379374.4:c.1487A>T ENSP00000368682.4:p.Lys496Met
NM_000444.5:c.1487A>T NP_000435.3:p.Lys496Met
NM_001282754.1:c.1487A>T NP_001269683.1:p.Lys496Met
XM_011545533.1:c.731A>T XP_011543835.1:p.Lys244Met
XM_011545534.1:c.731A>T XP_011543836.1:p.Lys244Met
XM_011545536.1:c.380A>T XP_011543838.1:p.Lys127Met
XM_011545536.2:c.380A>T XP_011543838.1:p.Lys127Met
XM_017029579.1:c.731A>T XP_016885068.1:p.Lys244Met
XM_024452390.1:c.1196A>T XP_024308158.1:p.Lys399Met
XR_001755695.1:n.2327A>T
NM_000444.6:c.1487A>T MANE Select NP_000435.3:p.Lys496Met
NM_001282754.2:c.1487A>T NP_001269683.1:p.Lys496Met