Canonical Allele Identifier: CA412572980

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099118A>G , CM000685.2:g.22099118A>G	GRCh38
NC_000023.10:g.22117236A>G , CM000685.1:g.22117236A>G	GRCh37
NC_000023.9:g.22027157A>G	NCBI36
NG_007563.2:g.71316A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1046A>G MANE Select	NP_000435.3:p.Asp349Gly
ENST00000379374.5:c.1046A>G MANE Select	ENSP00000368682.4:p.Asp349Gly
NM_000444.5:c.1046A>G	NP_000435.3:p.Asp349Gly
NM_001282754.1:c.1046A>G	NP_001269683.1:p.Asp349Gly
NM_001282754.2:c.1046A>G	NP_001269683.1:p.Asp349Gly
ENST00000379374.4:c.1046A>G	ENSP00000368682.4:p.Asp349Gly
ENST00000475778.1:n.319A>G
ENST00000475778.2:n.1472A>G
ENST00000684143.1:c.1043A>G	ENSP00000508264.1:p.Asp348Gly
ENST00000684745.1:n.720A>G
XM_011545533.1:c.290A>G	XP_011543835.1:p.Asp97Gly
XM_011545534.1:c.290A>G	XP_011543836.1:p.Asp97Gly
XM_011545535.1:c.1046A>G	XP_011543837.1:p.Asp349Gly
XM_017029579.1:c.290A>G	XP_016885068.1:p.Asp97Gly
XM_024452390.1:c.755A>G	XP_024308158.1:p.Asp252Gly
XR_001755695.1:n.1725A>G