Canonical Allele Identifier: CA10368057

Gene: PHEX

Linked Data

• dbSNP Id: rs753767214
• ExAC: X:22095682 C / A
• gnomAD v2: X-22095682-C-A
• MyVariant Identifiers: chrX:g.22095682C>A (hg19) ; chrX:g.22077564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077564C>A , CM000685.2:g.22077564C>A	GRCh38
NC_000023.10:g.22095682C>A , CM000685.1:g.22095682C>A	GRCh37
NC_000023.9:g.22005603C>A	NCBI36
NG_007563.2:g.49762C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.951C>A
ENST00000683214.1:n.633C>A
ENST00000684143.1:c.522C>A	ENSP00000508264.1:p.Gly174=
ENST00000684745.1:n.199C>A
ENST00000379374.5:c.525C>A MANE Select	ENSP00000368682.4:p.Gly175=
ENST00000379374.4:c.525C>A	ENSP00000368682.4:p.Gly175=
NM_000444.5:c.525C>A	NP_000435.3:p.Gly175=
NM_001282754.1:c.525C>A	NP_001269683.1:p.Gly175=
XM_011545535.1:c.525C>A	XP_011543837.1:p.Gly175=
XM_017029579.1:c.-93-12865C>A	XP_016885068.1:n.-93-12865C>A
XM_024452390.1:c.234C>A	XP_024308158.1:p.Gly78=
XR_001755695.1:n.1204C>A
NM_000444.6:c.525C>A MANE Select	NP_000435.3:p.Gly175=
NM_001282754.2:c.525C>A	NP_001269683.1:p.Gly175=