Canonical Allele Identifier: CA10368135

Gene: PHEX

Linked Data

• dbSNP Id: rs772921325
• ExAC: X:22115118 A / G
• gnomAD v2: X-22115118-A-G
• gnomAD v4: X-22097000-A-G
• MyVariant Identifiers: chrX:g.22115118A>G (hg19) ; chrX:g.22097000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097000A>G , CM000685.2:g.22097000A>G	GRCh38
NC_000023.10:g.22115118A>G , CM000685.1:g.22115118A>G	GRCh37
NC_000023.9:g.22025039A>G	NCBI36
NG_007563.2:g.69198A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1321A>G
ENST00000684143.1:c.892A>G	ENSP00000508264.1:p.Lys298Glu
ENST00000684745.1:n.569A>G
ENST00000379374.5:c.895A>G MANE Select	ENSP00000368682.4:p.Lys299Glu
ENST00000379374.4:c.895A>G	ENSP00000368682.4:p.Lys299Glu
ENST00000475778.1:n.168A>G
NM_000444.5:c.895A>G	NP_000435.3:p.Lys299Glu
NM_001282754.1:c.895A>G	NP_001269683.1:p.Lys299Glu
XM_011545533.1:c.139A>G	XP_011543835.1:p.Lys47Glu
XM_011545534.1:c.139A>G	XP_011543836.1:p.Lys47Glu
XM_011545535.1:c.895A>G	XP_011543837.1:p.Lys299Glu
XM_017029579.1:c.139A>G	XP_016885068.1:p.Lys47Glu
XM_024452390.1:c.604A>G	XP_024308158.1:p.Lys202Glu
XR_001755695.1:n.1574A>G
NM_000444.6:c.895A>G MANE Select	NP_000435.3:p.Lys299Glu
NM_001282754.2:c.895A>G	NP_001269683.1:p.Lys299Glu