Canonical Allele Identifier: CA412572337

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112138C>G (hg19) ; chrX:g.22094020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094020C>G , CM000685.2:g.22094020C>G	GRCh38
NC_000023.10:g.22112138C>G , CM000685.1:g.22112138C>G	GRCh37
NC_000023.9:g.22022059C>G	NCBI36
NG_007563.2:g.66218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1196C>G
ENST00000684143.1:c.767C>G	ENSP00000508264.1:p.Ala256Gly
ENST00000684745.1:n.444C>G
ENST00000379374.5:c.770C>G MANE Select	ENSP00000368682.4:p.Ala257Gly
ENST00000379374.4:c.770C>G	ENSP00000368682.4:p.Ala257Gly
ENST00000475778.1:n.43C>G
NM_000444.5:c.770C>G	NP_000435.3:p.Ala257Gly
NM_001282754.1:c.770C>G	NP_001269683.1:p.Ala257Gly
XM_011545533.1:c.14C>G	XP_011543835.1:p.Ala5Gly
XM_011545534.1:c.14C>G	XP_011543836.1:p.Ala5Gly
XM_011545535.1:c.770C>G	XP_011543837.1:p.Ala257Gly
XM_017029579.1:c.14C>G	XP_016885068.1:p.Ala5Gly
XM_024452390.1:c.479C>G	XP_024308158.1:p.Ala160Gly
XR_001755695.1:n.1449C>G
NM_000444.6:c.770C>G MANE Select	NP_000435.3:p.Ala257Gly
NM_001282754.2:c.770C>G	NP_001269683.1:p.Ala257Gly