Canonical Allele Identifier: CA412571440

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077579G>A , CM000685.2:g.22077579G>A	GRCh38
NC_000023.10:g.22095697G>A , CM000685.1:g.22095697G>A	GRCh37
NC_000023.9:g.22005618G>A	NCBI36
NG_007563.2:g.49777G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.540G>A MANE Select	NP_000435.3:p.Trp180Ter
ENST00000379374.5:c.540G>A MANE Select	ENSP00000368682.4:p.Trp180Ter
NM_000444.5:c.540G>A	NP_000435.3:p.Trp180Ter
NM_001282754.1:c.540G>A	NP_001269683.1:p.Trp180Ter
NM_001282754.2:c.540G>A	NP_001269683.1:p.Trp180Ter
ENST00000379374.4:c.540G>A	ENSP00000368682.4:p.Trp180Ter
ENST00000475778.2:n.966G>A
ENST00000683214.1:n.648G>A
ENST00000684143.1:c.537G>A	ENSP00000508264.1:p.Trp179Ter
ENST00000684745.1:n.214G>A
XM_011545535.1:c.540G>A	XP_011543837.1:p.Trp180Ter
XM_017029579.1:c.-93-12850G>A	XP_016885068.1:n.-93-12850G>A
XM_024452390.1:c.249G>A	XP_024308158.1:p.Trp83Ter
XR_001755695.1:n.1219G>A