Canonical Allele Identifier: CA515423659

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112124C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094006C>T , CM000685.2:g.22094006C>T	GRCh38
NC_000023.10:g.22112124C>T , CM000685.1:g.22112124C>T	GRCh37
NC_000023.9:g.22022045C>T	NCBI36
NG_007563.2:g.66204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1182C>T
ENST00000684143.1:c.753C>T	ENSP00000508264.1:p.Phe251=
ENST00000684745.1:n.430C>T
ENST00000379374.5:c.756C>T MANE Select	ENSP00000368682.4:p.Phe252=
ENST00000379374.4:c.756C>T	ENSP00000368682.4:p.Phe252=
ENST00000475778.1:n.29C>T
NM_000444.5:c.756C>T	NP_000435.3:p.Phe252=
NM_001282754.1:c.756C>T	NP_001269683.1:p.Phe252=
XM_011545533.1:c.-1C>T	XP_011543835.1:n.-1C>T
XM_011545534.1:c.-1C>T	XP_011543836.1:n.-1C>T
XM_011545535.1:c.756C>T	XP_011543837.1:p.Phe252=
XM_017029579.1:c.-1C>T	XP_016885068.1:n.-1C>T
XM_024452390.1:c.465C>T	XP_024308158.1:p.Phe155=
XR_001755695.1:n.1435C>T
NM_000444.6:c.756C>T MANE Select	NP_000435.3:p.Phe252=
NM_001282754.2:c.756C>T	NP_001269683.1:p.Phe252=