Canonical Allele Identifier: CA515427386

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151654T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133537T>A , CM000685.2:g.22133537T>A	GRCh38
NC_000023.10:g.22151654T>A , CM000685.1:g.22151654T>A	GRCh37
NC_000023.9:g.22061575T>A	NCBI36
NG_007563.2:g.105734T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.991T>A
ENST00000379374.5:c.1317T>A MANE Select	ENSP00000368682.4:p.Val439=
ENST00000379374.4:c.1317T>A	ENSP00000368682.4:p.Val439=
NM_000444.5:c.1317T>A	NP_000435.3:p.Val439=
NM_001282754.1:c.1317T>A	NP_001269683.1:p.Val439=
XM_011545533.1:c.561T>A	XP_011543835.1:p.Val187=
XM_011545534.1:c.561T>A	XP_011543836.1:p.Val187=
XM_011545535.1:c.1317T>A	XP_011543837.1:p.Val439=
XM_011545536.1:c.210T>A	XP_011543838.1:p.Val70=
XM_011545536.2:c.210T>A	XP_011543838.1:p.Val70=
XM_017029579.1:c.561T>A	XP_016885068.1:p.Val187=
XM_024452390.1:c.1026T>A	XP_024308158.1:p.Val342=
XR_001755695.1:n.1996T>A
NM_000444.6:c.1317T>A MANE Select	NP_000435.3:p.Val439=
NM_001282754.2:c.1317T>A	NP_001269683.1:p.Val439=