Canonical Allele Identifier: CA515423680

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112142G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094024G>T , CM000685.2:g.22094024G>T	GRCh38
NC_000023.10:g.22112142G>T , CM000685.1:g.22112142G>T	GRCh37
NC_000023.9:g.22022063G>T	NCBI36
NG_007563.2:g.66222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1200G>T
ENST00000684143.1:c.771G>T	ENSP00000508264.1:p.Val257=
ENST00000684745.1:n.448G>T
ENST00000379374.5:c.774G>T MANE Select	ENSP00000368682.4:p.Val258=
ENST00000379374.4:c.774G>T	ENSP00000368682.4:p.Val258=
ENST00000475778.1:n.47G>T
NM_000444.5:c.774G>T	NP_000435.3:p.Val258=
NM_001282754.1:c.774G>T	NP_001269683.1:p.Val258=
XM_011545533.1:c.18G>T	XP_011543835.1:p.Val6=
XM_011545534.1:c.18G>T	XP_011543836.1:p.Val6=
XM_011545535.1:c.774G>T	XP_011543837.1:p.Val258=
XM_017029579.1:c.18G>T	XP_016885068.1:p.Val6=
XM_024452390.1:c.483G>T	XP_024308158.1:p.Val161=
XR_001755695.1:n.1453G>T
NM_000444.6:c.774G>T MANE Select	NP_000435.3:p.Val258=
NM_001282754.2:c.774G>T	NP_001269683.1:p.Val258=