Canonical Allele Identifier: CA412572024

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22090444C>A , CM000685.2:g.22090444C>A	GRCh38
NC_000023.10:g.22108562C>A , CM000685.1:g.22108562C>A	GRCh37
NC_000023.9:g.22018483C>A	NCBI36
NG_007563.2:g.62642C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.679C>A MANE Select	NP_000435.3:p.Leu227Ile
ENST00000379374.5:c.679C>A MANE Select	ENSP00000368682.4:p.Leu227Ile
NM_000444.5:c.679C>A	NP_000435.3:p.Leu227Ile
NM_001282754.1:c.679C>A	NP_001269683.1:p.Leu227Ile
NM_001282754.2:c.679C>A	NP_001269683.1:p.Leu227Ile
ENST00000379374.4:c.679C>A	ENSP00000368682.4:p.Leu227Ile
ENST00000475778.2:n.1105C>A
ENST00000684143.1:c.676C>A	ENSP00000508264.1:p.Leu226Ile
ENST00000684745.1:n.353C>A
XM_011545533.1:c.-78C>A	XP_011543835.1:n.-78C>A
XM_011545534.1:c.-78C>A	XP_011543836.1:n.-78C>A
XM_011545535.1:c.679C>A	XP_011543837.1:p.Leu227Ile
XM_017029579.1:c.-78C>A	XP_016885068.1:n.-78C>A
XM_024452390.1:c.388C>A	XP_024308158.1:p.Leu130Ile
XR_001755695.1:n.1358C>A