Canonical Allele Identifier: CA515429669

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077630A>G , CM000685.2:g.22077630A>G	GRCh38
NC_000023.10:g.22095748A>G , CM000685.1:g.22095748A>G	GRCh37
NC_000023.9:g.22005669A>G	NCBI36
NG_007563.2:g.49828A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.591A>G MANE Select	NP_000435.3:p.Gln197=
ENST00000379374.5:c.591A>G MANE Select	ENSP00000368682.4:p.Gln197=
NM_000444.5:c.591A>G	NP_000435.3:p.Gln197=
NM_001282754.1:c.591A>G	NP_001269683.1:p.Gln197=
NM_001282754.2:c.591A>G	NP_001269683.1:p.Gln197=
ENST00000379374.4:c.591A>G	ENSP00000368682.4:p.Gln197=
ENST00000475778.2:n.1017A>G
ENST00000683214.1:n.699A>G
ENST00000684143.1:c.588A>G	ENSP00000508264.1:p.Gln196=
ENST00000684745.1:n.265A>G
XM_011545535.1:c.591A>G	XP_011543837.1:p.Gln197=
XM_017029579.1:c.-93-12799A>G	XP_016885068.1:n.-93-12799A>G
XM_024452390.1:c.300A>G	XP_024308158.1:p.Gln100=
XR_001755695.1:n.1270A>G