Canonical Allele Identifier: CA412572317

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112128G>T (hg19) ; chrX:g.22094010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094010G>T , CM000685.2:g.22094010G>T	GRCh38
NC_000023.10:g.22112128G>T , CM000685.1:g.22112128G>T	GRCh37
NC_000023.9:g.22022049G>T	NCBI36
NG_007563.2:g.66208G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1186G>T
ENST00000684143.1:c.757G>T	ENSP00000508264.1:p.Val253Leu
ENST00000684745.1:n.434G>T
ENST00000379374.5:c.760G>T MANE Select	ENSP00000368682.4:p.Val254Leu
ENST00000379374.4:c.760G>T	ENSP00000368682.4:p.Val254Leu
ENST00000475778.1:n.33G>T
NM_000444.5:c.760G>T	NP_000435.3:p.Val254Leu
NM_001282754.1:c.760G>T	NP_001269683.1:p.Val254Leu
XM_011545533.1:c.4G>T	XP_011543835.1:p.Val2Leu
XM_011545534.1:c.4G>T	XP_011543836.1:p.Val2Leu
XM_011545535.1:c.760G>T	XP_011543837.1:p.Val254Leu
XM_017029579.1:c.4G>T	XP_016885068.1:p.Val2Leu
XM_024452390.1:c.469G>T	XP_024308158.1:p.Val157Leu
XR_001755695.1:n.1439G>T
NM_000444.6:c.760G>T MANE Select	NP_000435.3:p.Val254Leu
NM_001282754.2:c.760G>T	NP_001269683.1:p.Val254Leu