Canonical Allele Identifier: CA412575011

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1686044
• ClinVar RCV Id: RCV002250211
• dbSNP Id: rs1057518377
• MyVariant Identifiers: chrX:g.22196495T>G (hg19) ; chrX:g.22178378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178378T>G , CM000685.2:g.22178378T>G	GRCh38
NC_000023.10:g.22196495T>G , CM000685.1:g.22196495T>G	GRCh37
NC_000023.9:g.22106416T>G	NCBI36
NG_007563.2:g.150575T>G

Transcript Alleles

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