Canonical Allele Identifier: CA515423921

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22115120A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097002A>G , CM000685.2:g.22097002A>G	GRCh38
NC_000023.10:g.22115120A>G , CM000685.1:g.22115120A>G	GRCh37
NC_000023.9:g.22025041A>G	NCBI36
NG_007563.2:g.69200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1323A>G
ENST00000684143.1:c.894A>G	ENSP00000508264.1:p.Lys298=
ENST00000684745.1:n.571A>G
ENST00000379374.5:c.897A>G MANE Select	ENSP00000368682.4:p.Lys299=
ENST00000379374.4:c.897A>G	ENSP00000368682.4:p.Lys299=
ENST00000475778.1:n.170A>G
NM_000444.5:c.897A>G	NP_000435.3:p.Lys299=
NM_001282754.1:c.897A>G	NP_001269683.1:p.Lys299=
XM_011545533.1:c.141A>G	XP_011543835.1:p.Lys47=
XM_011545534.1:c.141A>G	XP_011543836.1:p.Lys47=
XM_011545535.1:c.897A>G	XP_011543837.1:p.Lys299=
XM_017029579.1:c.141A>G	XP_016885068.1:p.Lys47=
XM_024452390.1:c.606A>G	XP_024308158.1:p.Lys202=
XR_001755695.1:n.1576A>G
NM_000444.6:c.897A>G MANE Select	NP_000435.3:p.Lys299=
NM_001282754.2:c.897A>G	NP_001269683.1:p.Lys299=