Canonical Allele Identifier: CA412574568

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151657G>T (hg19) ; chrX:g.22133540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133540G>T , CM000685.2:g.22133540G>T	GRCh38
NC_000023.10:g.22151657G>T , CM000685.1:g.22151657G>T	GRCh37
NC_000023.9:g.22061578G>T	NCBI36
NG_007563.2:g.105737G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.994G>T
ENST00000379374.5:c.1320G>T MANE Select	ENSP00000368682.4:p.Glu440Asp
ENST00000379374.4:c.1320G>T	ENSP00000368682.4:p.Glu440Asp
NM_000444.5:c.1320G>T	NP_000435.3:p.Glu440Asp
NM_001282754.1:c.1320G>T	NP_001269683.1:p.Glu440Asp
XM_011545533.1:c.564G>T	XP_011543835.1:p.Glu188Asp
XM_011545534.1:c.564G>T	XP_011543836.1:p.Glu188Asp
XM_011545535.1:c.1320G>T	XP_011543837.1:p.Glu440Asp
XM_011545536.1:c.213G>T	XP_011543838.1:p.Glu71Asp
XM_011545536.2:c.213G>T	XP_011543838.1:p.Glu71Asp
XM_017029579.1:c.564G>T	XP_016885068.1:p.Glu188Asp
XM_024452390.1:c.1029G>T	XP_024308158.1:p.Glu343Asp
XR_001755695.1:n.1999G>T
NM_000444.6:c.1320G>T MANE Select	NP_000435.3:p.Glu440Asp
NM_001282754.2:c.1320G>T	NP_001269683.1:p.Glu440Asp