Canonical Allele Identifier: CA412574960

Gene: PHEX

Linked Data

• gnomAD v4: X-22178355-G-T
• MyVariant Identifiers: chrX:g.22196472G>T (hg19) ; chrX:g.22178355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178355G>T , CM000685.2:g.22178355G>T	GRCh38
NC_000023.10:g.22196472G>T , CM000685.1:g.22196472G>T	GRCh37
NC_000023.9:g.22106393G>T	NCBI36
NG_007563.2:g.150552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.119G>T	ENSP00000508003.1:p.Arg40Ile
ENST00000683162.1:c.119G>T	ENSP00000508059.1:p.Arg40Ile
ENST00000683289.1:c.119G>T	ENSP00000508195.1:p.Arg40Ile
ENST00000683917.1:n.349G>T
ENST00000684356.1:c.119G>T	ENSP00000507619.1:p.Arg40Ile
ENST00000684745.1:n.1239G>T
ENST00000379374.5:c.1565G>T MANE Select	ENSP00000368682.4:p.Arg522Ile
ENST00000379374.4:c.1565G>T	ENSP00000368682.4:p.Arg522Ile
NM_000444.5:c.1565G>T	NP_000435.3:p.Arg522Ile
NM_001282754.1:c.1565G>T	NP_001269683.1:p.Arg522Ile
XM_011545533.1:c.809G>T	XP_011543835.1:p.Arg270Ile
XM_011545534.1:c.809G>T	XP_011543836.1:p.Arg270Ile
XM_011545536.1:c.458G>T	XP_011543838.1:p.Arg153Ile
XM_011545536.2:c.458G>T	XP_011543838.1:p.Arg153Ile
XM_017029579.1:c.809G>T	XP_016885068.1:p.Arg270Ile
XM_024452390.1:c.1274G>T	XP_024308158.1:p.Arg425Ile
XR_001755695.1:n.2405G>T
NM_000444.6:c.1565G>T MANE Select	NP_000435.3:p.Arg522Ile
NM_001282754.2:c.1565G>T	NP_001269683.1:p.Arg522Ile