Canonical Allele Identifier: CA412572265

Gene: PHEX

Linked Data

• gnomAD v4: X-22093987-G-T
• MyVariant Identifiers: chrX:g.22112105G>T (hg19) ; chrX:g.22093987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093987G>T , CM000685.2:g.22093987G>T	GRCh38
NC_000023.10:g.22112105G>T , CM000685.1:g.22112105G>T	GRCh37
NC_000023.9:g.22022026G>T	NCBI36
NG_007563.2:g.66185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1163G>T
ENST00000684143.1:c.734G>T	ENSP00000508264.1:p.Arg245Leu
ENST00000684745.1:n.411G>T
ENST00000379374.5:c.737G>T MANE Select	ENSP00000368682.4:p.Arg246Leu
ENST00000379374.4:c.737G>T	ENSP00000368682.4:p.Arg246Leu
ENST00000475778.1:n.10G>T
NM_000444.5:c.737G>T	NP_000435.3:p.Arg246Leu
NM_001282754.1:c.737G>T	NP_001269683.1:p.Arg246Leu
XM_011545533.1:c.-20G>T	XP_011543835.1:n.-20G>T
XM_011545534.1:c.-20G>T	XP_011543836.1:n.-20G>T
XM_011545535.1:c.737G>T	XP_011543837.1:p.Arg246Leu
XM_017029579.1:c.-20G>T	XP_016885068.1:n.-20G>T
XM_024452390.1:c.446G>T	XP_024308158.1:p.Arg149Leu
XR_001755695.1:n.1416G>T
NM_000444.6:c.737G>T MANE Select	NP_000435.3:p.Arg246Leu
NM_001282754.2:c.737G>T	NP_001269683.1:p.Arg246Leu