Canonical Allele Identifier: CA412574558

Gene: PHEX

Linked Data

• gnomAD v4: X-22133535-G-T
• MyVariant Identifiers: chrX:g.22151652G>T (hg19) ; chrX:g.22133535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133535G>T , CM000685.2:g.22133535G>T	GRCh38
NC_000023.10:g.22151652G>T , CM000685.1:g.22151652G>T	GRCh37
NC_000023.9:g.22061573G>T	NCBI36
NG_007563.2:g.105732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.989G>T
ENST00000379374.5:c.1315G>T MANE Select	ENSP00000368682.4:p.Val439Phe
ENST00000379374.4:c.1315G>T	ENSP00000368682.4:p.Val439Phe
NM_000444.5:c.1315G>T	NP_000435.3:p.Val439Phe
NM_001282754.1:c.1315G>T	NP_001269683.1:p.Val439Phe
XM_011545533.1:c.559G>T	XP_011543835.1:p.Val187Phe
XM_011545534.1:c.559G>T	XP_011543836.1:p.Val187Phe
XM_011545535.1:c.1315G>T	XP_011543837.1:p.Val439Phe
XM_011545536.1:c.208G>T	XP_011543838.1:p.Val70Phe
XM_011545536.2:c.208G>T	XP_011543838.1:p.Val70Phe
XM_017029579.1:c.559G>T	XP_016885068.1:p.Val187Phe
XM_024452390.1:c.1024G>T	XP_024308158.1:p.Val342Phe
XR_001755695.1:n.1994G>T
NM_000444.6:c.1315G>T MANE Select	NP_000435.3:p.Val439Phe
NM_001282754.2:c.1315G>T	NP_001269683.1:p.Val439Phe