Canonical Allele Identifier: CA2579572269

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178399T>A , CM000685.2:g.22178399T>A	GRCh38
NC_000023.10:g.22196516T>A , CM000685.1:g.22196516T>A	GRCh37
NC_000023.9:g.22106437T>A	NCBI36
NG_007563.2:g.150596T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.140+23T>A	ENSP00000508003.1:n.140+23T>A
ENST00000683162.1:c.140+23T>A	ENSP00000508059.1:n.140+23T>A
ENST00000683289.1:c.140+23T>A	ENSP00000508195.1:n.140+23T>A
ENST00000683917.1:n.370+23T>A
ENST00000684356.1:c.140+23T>A	ENSP00000507619.1:n.140+23T>A
ENST00000684745.1:n.1260+23T>A
ENST00000379374.5:c.1586+23T>A MANE Select	ENSP00000368682.4:n.1586+23T>A
ENST00000379374.4:c.1586+23T>A	ENSP00000368682.4:n.1586+23T>A
NM_000444.5:c.1586+23T>A	NP_000435.3:n.1586+23T>A
NM_001282754.1:c.1586+23T>A	NP_001269683.1:n.1586+23T>A
XM_011545533.1:c.830+23T>A	XP_011543835.1:n.830+23T>A
XM_011545534.1:c.830+23T>A	XP_011543836.1:n.830+23T>A
XM_011545536.1:c.479+23T>A	XP_011543838.1:n.479+23T>A
XM_011545536.2:c.479+23T>A	XP_011543838.1:n.479+23T>A
XM_017029579.1:c.830+23T>A	XP_016885068.1:n.830+23T>A
XM_024452390.1:c.1295+23T>A	XP_024308158.1:n.1295+23T>A
XR_001755695.1:n.2426+23T>A
NM_000444.6:c.1586+23T>A MANE Select	NP_000435.3:n.1586+23T>A
NM_001282754.2:c.1586+23T>A	NP_001269683.1:n.1586+23T>A