Canonical Allele Identifier: CA412565893

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22038525T>A , CM000685.2:g.22038525T>A	GRCh38
NC_000023.10:g.22056643T>A , CM000685.1:g.22056643T>A	GRCh37
NC_000023.9:g.21966564T>A	NCBI36
NG_007563.2:g.10723T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.175T>A MANE Select	NP_000435.3:p.Cys59Ser
ENST00000379374.5:c.175T>A MANE Select	ENSP00000368682.4:p.Cys59Ser
NM_000444.5:c.175T>A	NP_000435.3:p.Cys59Ser
NM_001282754.1:c.175T>A	NP_001269683.1:p.Cys59Ser
NM_001282754.2:c.175T>A	NP_001269683.1:p.Cys59Ser
ENST00000379374.4:c.175T>A	ENSP00000368682.4:p.Cys59Ser
ENST00000475778.2:n.601T>A
ENST00000683214.1:n.544+5402T>A
ENST00000684143.1:c.175T>A	ENSP00000508264.1:p.Cys59Ser
XM_011545535.1:c.175T>A	XP_011543837.1:p.Cys59Ser
XM_024452390.1:c.-117T>A	XP_024308158.1:n.-117T>A
XR_001755695.1:n.854T>A