Canonical Allele Identifier: CA412572325

Gene: PHEX

Linked Data

• gnomAD v4: X-22094014-A-G
• MyVariant Identifiers: chrX:g.22112132A>G (hg19) ; chrX:g.22094014A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1190A>G
ENST00000684143.1:c.761A>G	ENSP00000508264.1:p.Asp254Gly
ENST00000684745.1:n.438A>G
ENST00000379374.5:c.764A>G MANE Select	ENSP00000368682.4:p.Asp255Gly
ENST00000379374.4:c.764A>G	ENSP00000368682.4:p.Asp255Gly
ENST00000475778.1:n.37A>G
NM_000444.5:c.764A>G	NP_000435.3:p.Asp255Gly
NM_001282754.1:c.764A>G	NP_001269683.1:p.Asp255Gly
XM_011545533.1:c.8A>G	XP_011543835.1:p.Asp3Gly
XM_011545534.1:c.8A>G	XP_011543836.1:p.Asp3Gly
XM_011545535.1:c.764A>G	XP_011543837.1:p.Asp255Gly
XM_017029579.1:c.8A>G	XP_016885068.1:p.Asp3Gly
XM_024452390.1:c.473A>G	XP_024308158.1:p.Asp158Gly
XR_001755695.1:n.1443A>G
NM_000444.6:c.764A>G MANE Select	NP_000435.3:p.Asp255Gly
NM_001282754.2:c.764A>G	NP_001269683.1:p.Asp255Gly