Canonical Allele Identifier: CA327522048

Gene: PHEX

Linked Data

• dbSNP Id: rs923412706
• gnomAD v4: X-22093913-C-G
• MyVariant Identifiers: chrX:g.22112031C>G (hg19) ; chrX:g.22093913C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093913C>G , CM000685.2:g.22093913C>G	GRCh38
NC_000023.10:g.22112031C>G , CM000685.1:g.22112031C>G	GRCh37
NC_000023.9:g.22021952C>G	NCBI36
NG_007563.2:g.66111C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1159-70C>G
ENST00000684143.1:c.730-70C>G	ENSP00000508264.1:n.730-70C>G
ENST00000684745.1:n.407-70C>G
ENST00000379374.5:c.733-70C>G MANE Select	ENSP00000368682.4:n.733-70C>G
ENST00000379374.4:c.733-70C>G	ENSP00000368682.4:n.733-70C>G
ENST00000475778.1:n.6-70C>G
NM_000444.5:c.733-70C>G	NP_000435.3:n.733-70C>G
NM_001282754.1:c.733-70C>G	NP_001269683.1:n.733-70C>G
XM_011545533.1:c.-24-70C>G	XP_011543835.1:n.-24-70C>G
XM_011545534.1:c.-24-70C>G	XP_011543836.1:n.-24-70C>G
XM_011545535.1:c.733-70C>G	XP_011543837.1:n.733-70C>G
XM_017029579.1:c.-24-70C>G	XP_016885068.1:n.-24-70C>G
XM_024452390.1:c.442-70C>G	XP_024308158.1:n.442-70C>G
XR_001755695.1:n.1412-70C>G
NM_000444.6:c.733-70C>G MANE Select	NP_000435.3:n.733-70C>G
NM_001282754.2:c.733-70C>G	NP_001269683.1:n.733-70C>G