Canonical Allele Identifier: CA412571399

Gene: PHEX

Linked Data

• gnomAD v4: X-22077560-T-C
• MyVariant Identifiers: chrX:g.22095678T>C (hg19) ; chrX:g.22077560T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077560T>C , CM000685.2:g.22077560T>C	GRCh38
NC_000023.10:g.22095678T>C , CM000685.1:g.22095678T>C	GRCh37
NC_000023.9:g.22005599T>C	NCBI36
NG_007563.2:g.49758T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.947T>C
ENST00000683214.1:n.629T>C
ENST00000684143.1:c.518T>C	ENSP00000508264.1:p.Ile173Thr
ENST00000684745.1:n.195T>C
ENST00000379374.5:c.521T>C MANE Select	ENSP00000368682.4:p.Ile174Thr
ENST00000379374.4:c.521T>C	ENSP00000368682.4:p.Ile174Thr
NM_000444.5:c.521T>C	NP_000435.3:p.Ile174Thr
NM_001282754.1:c.521T>C	NP_001269683.1:p.Ile174Thr
XM_011545535.1:c.521T>C	XP_011543837.1:p.Ile174Thr
XM_017029579.1:c.-93-12869T>C	XP_016885068.1:n.-93-12869T>C
XM_024452390.1:c.230T>C	XP_024308158.1:p.Ile77Thr
XR_001755695.1:n.1200T>C
NM_000444.6:c.521T>C MANE Select	NP_000435.3:p.Ile174Thr
NM_001282754.2:c.521T>C	NP_001269683.1:p.Ile174Thr