Canonical Allele Identifier: CA412572326

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2858573
• ClinVar RCV Id: RCV003699432
• gnomAD v4: X-22094014-A-T
• MyVariant Identifiers: chrX:g.22112132A>T (hg19) ; chrX:g.22094014A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094014A>T , CM000685.2:g.22094014A>T	GRCh38
NC_000023.10:g.22112132A>T , CM000685.1:g.22112132A>T	GRCh37
NC_000023.9:g.22022053A>T	NCBI36
NG_007563.2:g.66212A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1190A>T
ENST00000684143.1:c.761A>T	ENSP00000508264.1:p.Asp254Val
ENST00000684745.1:n.438A>T
ENST00000379374.5:c.764A>T MANE Select	ENSP00000368682.4:p.Asp255Val
ENST00000379374.4:c.764A>T	ENSP00000368682.4:p.Asp255Val
ENST00000475778.1:n.37A>T
NM_000444.5:c.764A>T	NP_000435.3:p.Asp255Val
NM_001282754.1:c.764A>T	NP_001269683.1:p.Asp255Val
XM_011545533.1:c.8A>T	XP_011543835.1:p.Asp3Val
XM_011545534.1:c.8A>T	XP_011543836.1:p.Asp3Val
XM_011545535.1:c.764A>T	XP_011543837.1:p.Asp255Val
XM_017029579.1:c.8A>T	XP_016885068.1:p.Asp3Val
XM_024452390.1:c.473A>T	XP_024308158.1:p.Asp158Val
XR_001755695.1:n.1443A>T
NM_000444.6:c.764A>T MANE Select	NP_000435.3:p.Asp255Val
NM_001282754.2:c.764A>T	NP_001269683.1:p.Asp255Val