Canonical Allele Identifier: CA412572957

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099109A>G , CM000685.2:g.22099109A>G	GRCh38
NC_000023.10:g.22117227A>G , CM000685.1:g.22117227A>G	GRCh37
NC_000023.9:g.22027148A>G	NCBI36
NG_007563.2:g.71307A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1037A>G MANE Select	NP_000435.3:p.Tyr346Cys
ENST00000379374.5:c.1037A>G MANE Select	ENSP00000368682.4:p.Tyr346Cys
NM_000444.5:c.1037A>G	NP_000435.3:p.Tyr346Cys
NM_001282754.1:c.1037A>G	NP_001269683.1:p.Tyr346Cys
NM_001282754.2:c.1037A>G	NP_001269683.1:p.Tyr346Cys
ENST00000379374.4:c.1037A>G	ENSP00000368682.4:p.Tyr346Cys
ENST00000475778.1:n.310A>G
ENST00000475778.2:n.1463A>G
ENST00000684143.1:c.1034A>G	ENSP00000508264.1:p.Tyr345Cys
ENST00000684745.1:n.711A>G
XM_011545533.1:c.281A>G	XP_011543835.1:p.Tyr94Cys
XM_011545534.1:c.281A>G	XP_011543836.1:p.Tyr94Cys
XM_011545535.1:c.1037A>G	XP_011543837.1:p.Tyr346Cys
XM_017029579.1:c.281A>G	XP_016885068.1:p.Tyr94Cys
XM_024452390.1:c.746A>G	XP_024308158.1:p.Tyr249Cys
XR_001755695.1:n.1716A>G