Canonical Allele Identifier: CA412572421

Gene: PHEX

Linked Data

• gnomAD v4: X-22094058-G-T
• MyVariant Identifiers: chrX:g.22112176G>T (hg19) ; chrX:g.22094058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094058G>T , CM000685.2:g.22094058G>T	GRCh38
NC_000023.10:g.22112176G>T , CM000685.1:g.22112176G>T	GRCh37
NC_000023.9:g.22022097G>T	NCBI36
NG_007563.2:g.66256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1234G>T
ENST00000684143.1:c.805G>T	ENSP00000508264.1:p.Asp269Tyr
ENST00000684745.1:n.482G>T
ENST00000379374.5:c.808G>T MANE Select	ENSP00000368682.4:p.Asp270Tyr
ENST00000379374.4:c.808G>T	ENSP00000368682.4:p.Asp270Tyr
ENST00000475778.1:n.81G>T
NM_000444.5:c.808G>T	NP_000435.3:p.Asp270Tyr
NM_001282754.1:c.808G>T	NP_001269683.1:p.Asp270Tyr
XM_011545533.1:c.52G>T	XP_011543835.1:p.Asp18Tyr
XM_011545534.1:c.52G>T	XP_011543836.1:p.Asp18Tyr
XM_011545535.1:c.808G>T	XP_011543837.1:p.Asp270Tyr
XM_017029579.1:c.52G>T	XP_016885068.1:p.Asp18Tyr
XM_024452390.1:c.517G>T	XP_024308158.1:p.Asp173Tyr
XR_001755695.1:n.1487G>T
NM_000444.6:c.808G>T MANE Select	NP_000435.3:p.Asp270Tyr
NM_001282754.2:c.808G>T	NP_001269683.1:p.Asp270Tyr