Canonical Allele Identifier: CA412572276

Gene: PHEX

Linked Data

• gnomAD v4: X-22093993-C-A
• MyVariant Identifiers: chrX:g.22112111C>A (hg19) ; chrX:g.22093993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093993C>A , CM000685.2:g.22093993C>A	GRCh38
NC_000023.10:g.22112111C>A , CM000685.1:g.22112111C>A	GRCh37
NC_000023.9:g.22022032C>A	NCBI36
NG_007563.2:g.66191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1169C>A
ENST00000684143.1:c.740C>A	ENSP00000508264.1:p.Ala247Asp
ENST00000684745.1:n.417C>A
ENST00000379374.5:c.743C>A MANE Select	ENSP00000368682.4:p.Ala248Asp
ENST00000379374.4:c.743C>A	ENSP00000368682.4:p.Ala248Asp
ENST00000475778.1:n.16C>A
NM_000444.5:c.743C>A	NP_000435.3:p.Ala248Asp
NM_001282754.1:c.743C>A	NP_001269683.1:p.Ala248Asp
XM_011545533.1:c.-14C>A	XP_011543835.1:n.-14C>A
XM_011545534.1:c.-14C>A	XP_011543836.1:n.-14C>A
XM_011545535.1:c.743C>A	XP_011543837.1:p.Ala248Asp
XM_017029579.1:c.-14C>A	XP_016885068.1:n.-14C>A
XM_024452390.1:c.452C>A	XP_024308158.1:p.Ala151Asp
XR_001755695.1:n.1422C>A
NM_000444.6:c.743C>A MANE Select	NP_000435.3:p.Ala248Asp
NM_001282754.2:c.743C>A	NP_001269683.1:p.Ala248Asp