Canonical Allele Identifier: CA515431828
Gene: PHEX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.22196461C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178344C>T , CM000685.2:g.22178344C>T GRCh38
NC_000023.10:g.22196461C>T , CM000685.1:g.22196461C>T GRCh37
NC_000023.9:g.22106382C>T NCBI36
NG_007563.2:g.150541C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.108C>T ENSP00000508003.1:p.Phe36=
ENST00000683162.1:c.108C>T ENSP00000508059.1:p.Phe36=
ENST00000683289.1:c.108C>T ENSP00000508195.1:p.Phe36=
ENST00000683917.1:n.338C>T
ENST00000684356.1:c.108C>T ENSP00000507619.1:p.Phe36=
ENST00000684745.1:n.1228C>T
ENST00000379374.5:c.1554C>T MANE Select ENSP00000368682.4:p.Phe518=
ENST00000379374.4:c.1554C>T ENSP00000368682.4:p.Phe518=
NM_000444.5:c.1554C>T NP_000435.3:p.Phe518=
NM_001282754.1:c.1554C>T NP_001269683.1:p.Phe518=
XM_011545533.1:c.798C>T XP_011543835.1:p.Phe266=
XM_011545534.1:c.798C>T XP_011543836.1:p.Phe266=
XM_011545536.1:c.447C>T XP_011543838.1:p.Phe149=
XM_011545536.2:c.447C>T XP_011543838.1:p.Phe149=
XM_017029579.1:c.798C>T XP_016885068.1:p.Phe266=
XM_024452390.1:c.1263C>T XP_024308158.1:p.Phe421=
XR_001755695.1:n.2394C>T
NM_000444.6:c.1554C>T MANE Select NP_000435.3:p.Phe518=
NM_001282754.2:c.1554C>T NP_001269683.1:p.Phe518=