Canonical Allele Identifier: CA873940922

Gene: PHEX

Linked Data

• dbSNP Id: rs1393721297
• gnomAD v3: X-22046661-A-G
• gnomAD v4: X-22046661-A-G
• MyVariant Identifiers: chrX:g.22064779A>G (hg19) ; chrX:g.22046661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046661A>G , CM000685.2:g.22046661A>G	GRCh38
NC_000023.10:g.22064779A>G , CM000685.1:g.22064779A>G	GRCh37
NC_000023.9:g.21974700A>G	NCBI36
NG_007563.2:g.18859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-389A>G
ENST00000683214.1:n.544+13538A>G
ENST00000684143.1:c.188-389A>G	ENSP00000508264.1:n.188-389A>G
ENST00000379374.5:c.188-389A>G MANE Select	ENSP00000368682.4:n.188-389A>G
ENST00000379374.4:c.188-389A>G	ENSP00000368682.4:n.188-389A>G
NM_000444.5:c.188-389A>G	NP_000435.3:n.188-389A>G
NM_001282754.1:c.188-389A>G	NP_001269683.1:n.188-389A>G
XM_011545535.1:c.188-389A>G	XP_011543837.1:n.188-389A>G
XM_024452390.1:c.-104-389A>G	XP_024308158.1:n.-104-389A>G
XR_001755695.1:n.867-389A>G
NM_000444.6:c.188-389A>G MANE Select	NP_000435.3:n.188-389A>G
NM_001282754.2:c.188-389A>G	NP_001269683.1:n.188-389A>G