Canonical Allele Identifier: CA412573295

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22132576G>A (hg19) ; chrX:g.22114458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114458G>A , CM000685.2:g.22114458G>A	GRCh38
NC_000023.10:g.22132576G>A , CM000685.1:g.22132576G>A	GRCh37
NC_000023.9:g.22042497G>A	NCBI36
NG_007563.2:g.86656G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1171G>A	ENSP00000508264.1:p.Val391Ile
ENST00000684745.1:n.848G>A
ENST00000379374.5:c.1174G>A MANE Select	ENSP00000368682.4:p.Val392Ile
ENST00000379374.4:c.1174G>A	ENSP00000368682.4:p.Val392Ile
NM_000444.5:c.1174G>A	NP_000435.3:p.Val392Ile
NM_001282754.1:c.1174G>A	NP_001269683.1:p.Val392Ile
XM_011545533.1:c.418G>A	XP_011543835.1:p.Val140Ile
XM_011545534.1:c.418G>A	XP_011543836.1:p.Val140Ile
XM_011545535.1:c.1174G>A	XP_011543837.1:p.Val392Ile
XM_011545536.1:c.67G>A	XP_011543838.1:p.Val23Ile
XM_011545536.2:c.67G>A	XP_011543838.1:p.Val23Ile
XM_017029579.1:c.418G>A	XP_016885068.1:p.Val140Ile
XM_024452390.1:c.883G>A	XP_024308158.1:p.Val295Ile
XR_001755695.1:n.1853G>A
NM_000444.6:c.1174G>A MANE Select	NP_000435.3:p.Val392Ile
NM_001282754.2:c.1174G>A	NP_001269683.1:p.Val392Ile