Canonical Allele Identifier: CA412572175

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22090498G>T , CM000685.2:g.22090498G>T	GRCh38
NC_000023.10:g.22108616G>T , CM000685.1:g.22108616G>T	GRCh37
NC_000023.9:g.22018537G>T	NCBI36
NG_007563.2:g.62696G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.732+1G>T MANE Select	NP_000435.3:n.732+1G>T
ENST00000379374.5:c.732+1G>T MANE Select	ENSP00000368682.4:n.732+1G>T
NM_000444.5:c.732+1G>T	NP_000435.3:n.732+1G>T
NM_001282754.1:c.732+1G>T	NP_001269683.1:n.732+1G>T
NM_001282754.2:c.732+1G>T	NP_001269683.1:n.732+1G>T
ENST00000379374.4:c.732+1G>T	ENSP00000368682.4:n.732+1G>T
ENST00000475778.1:n.5+1G>T
ENST00000475778.2:n.1158+1G>T
ENST00000684143.1:c.729+1G>T	ENSP00000508264.1:n.729+1G>T
ENST00000684745.1:n.406+1G>T
XM_011545533.1:c.-25+1G>T	XP_011543835.1:n.-25+1G>T
XM_011545534.1:c.-25+1G>T	XP_011543836.1:n.-25+1G>T
XM_011545535.1:c.732+1G>T	XP_011543837.1:n.732+1G>T
XM_017029579.1:c.-25+1G>T	XP_016885068.1:n.-25+1G>T
XM_024452390.1:c.441+1G>T	XP_024308158.1:n.441+1G>T
XR_001755695.1:n.1411+1G>T