Canonical Allele Identifier: CA327518414

Gene: PHEX

Linked Data

• dbSNP Id: rs905404302
• MyVariant Identifiers: chrX:g.22064825C>A (hg19) ; chrX:g.22046707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046707C>A , CM000685.2:g.22046707C>A	GRCh38
NC_000023.10:g.22064825C>A , CM000685.1:g.22064825C>A	GRCh37
NC_000023.9:g.21974746C>A	NCBI36
NG_007563.2:g.18905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-343C>A
ENST00000683214.1:n.544+13584C>A
ENST00000684143.1:c.188-343C>A	ENSP00000508264.1:n.188-343C>A
ENST00000379374.5:c.188-343C>A MANE Select	ENSP00000368682.4:n.188-343C>A
ENST00000379374.4:c.188-343C>A	ENSP00000368682.4:n.188-343C>A
NM_000444.5:c.188-343C>A	NP_000435.3:n.188-343C>A
NM_001282754.1:c.188-343C>A	NP_001269683.1:n.188-343C>A
XM_011545535.1:c.188-343C>A	XP_011543837.1:n.188-343C>A
XM_024452390.1:c.-104-343C>A	XP_024308158.1:n.-104-343C>A
XR_001755695.1:n.867-343C>A
NM_000444.6:c.188-343C>A MANE Select	NP_000435.3:n.188-343C>A
NM_001282754.2:c.188-343C>A	NP_001269683.1:n.188-343C>A