Canonical Allele Identifier: CA327528684

Gene: PHEX

Linked Data

• dbSNP Id: rs1008724632
• gnomAD v4: X-22178485-G-C
• MyVariant Identifiers: chrX:g.22196602G>C (hg19) ; chrX:g.22178485G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178485G>C , CM000685.2:g.22178485G>C	GRCh38
NC_000023.10:g.22196602G>C , CM000685.1:g.22196602G>C	GRCh37
NC_000023.9:g.22106523G>C	NCBI36
NG_007563.2:g.150682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.140+109G>C	ENSP00000508003.1:n.140+109G>C
ENST00000683162.1:c.140+109G>C	ENSP00000508059.1:n.140+109G>C
ENST00000683289.1:c.140+109G>C	ENSP00000508195.1:n.140+109G>C
ENST00000683917.1:n.370+109G>C
ENST00000684356.1:c.140+109G>C	ENSP00000507619.1:n.140+109G>C
ENST00000684745.1:n.1260+109G>C
ENST00000379374.5:c.1586+109G>C MANE Select	ENSP00000368682.4:n.1586+109G>C
ENST00000379374.4:c.1586+109G>C	ENSP00000368682.4:n.1586+109G>C
NM_000444.5:c.1586+109G>C	NP_000435.3:n.1586+109G>C
NM_001282754.1:c.1586+109G>C	NP_001269683.1:n.1586+109G>C
XM_011545533.1:c.830+109G>C	XP_011543835.1:n.830+109G>C
XM_011545534.1:c.830+109G>C	XP_011543836.1:n.830+109G>C
XM_011545536.1:c.479+109G>C	XP_011543838.1:n.479+109G>C
XM_011545536.2:c.479+109G>C	XP_011543838.1:n.479+109G>C
XM_017029579.1:c.830+109G>C	XP_016885068.1:n.830+109G>C
XM_024452390.1:c.1295+109G>C	XP_024308158.1:n.1295+109G>C
XR_001755695.1:n.2426+109G>C
NM_000444.6:c.1586+109G>C MANE Select	NP_000435.3:n.1586+109G>C
NM_001282754.2:c.1586+109G>C	NP_001269683.1:n.1586+109G>C