Canonical Allele Identifier: CA515429758

Gene: PHEX

Linked Data

• gnomAD v4: X-22077666-C-G
• MyVariant Identifiers: chrX:g.22095784C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077666C>G , CM000685.2:g.22077666C>G	GRCh38
NC_000023.10:g.22095784C>G , CM000685.1:g.22095784C>G	GRCh37
NC_000023.9:g.22005705C>G	NCBI36
NG_007563.2:g.49864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1053C>G
ENST00000683214.1:n.735C>G
ENST00000684143.1:c.624C>G	ENSP00000508264.1:p.Ser208=
ENST00000684745.1:n.301C>G
ENST00000379374.5:c.627C>G MANE Select	ENSP00000368682.4:p.Ser209=
ENST00000379374.4:c.627C>G	ENSP00000368682.4:p.Ser209=
NM_000444.5:c.627C>G	NP_000435.3:p.Ser209=
NM_001282754.1:c.627C>G	NP_001269683.1:p.Ser209=
XM_011545535.1:c.627C>G	XP_011543837.1:p.Ser209=
XM_017029579.1:c.-93-12763C>G	XP_016885068.1:n.-93-12763C>G
XM_024452390.1:c.336C>G	XP_024308158.1:p.Ser112=
XR_001755695.1:n.1306C>G
NM_000444.6:c.627C>G MANE Select	NP_000435.3:p.Ser209=
NM_001282754.2:c.627C>G	NP_001269683.1:p.Ser209=