Canonical Allele Identifier: CA412572930

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099094T>A , CM000685.2:g.22099094T>A	GRCh38
NC_000023.10:g.22117212T>A , CM000685.1:g.22117212T>A	GRCh37
NC_000023.9:g.22027133T>A	NCBI36
NG_007563.2:g.71292T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1022T>A MANE Select	NP_000435.3:p.Val341Asp
ENST00000379374.5:c.1022T>A MANE Select	ENSP00000368682.4:p.Val341Asp
NM_000444.5:c.1022T>A	NP_000435.3:p.Val341Asp
NM_001282754.1:c.1022T>A	NP_001269683.1:p.Val341Asp
NM_001282754.2:c.1022T>A	NP_001269683.1:p.Val341Asp
ENST00000379374.4:c.1022T>A	ENSP00000368682.4:p.Val341Asp
ENST00000475778.1:n.295T>A
ENST00000475778.2:n.1448T>A
ENST00000684143.1:c.1019T>A	ENSP00000508264.1:p.Val340Asp
ENST00000684745.1:n.696T>A
XM_011545533.1:c.266T>A	XP_011543835.1:p.Val89Asp
XM_011545534.1:c.266T>A	XP_011543836.1:p.Val89Asp
XM_011545535.1:c.1022T>A	XP_011543837.1:p.Val341Asp
XM_017029579.1:c.266T>A	XP_016885068.1:p.Val89Asp
XM_024452390.1:c.731T>A	XP_024308158.1:p.Val244Asp
XR_001755695.1:n.1701T>A