Canonical Allele Identifier: CA515423683

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112145T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094027T>G , CM000685.2:g.22094027T>G	GRCh38
NC_000023.10:g.22112145T>G , CM000685.1:g.22112145T>G	GRCh37
NC_000023.9:g.22022066T>G	NCBI36
NG_007563.2:g.66225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1203T>G
ENST00000684143.1:c.774T>G	ENSP00000508264.1:p.Leu258=
ENST00000684745.1:n.451T>G
ENST00000379374.5:c.777T>G MANE Select	ENSP00000368682.4:p.Leu259=
ENST00000379374.4:c.777T>G	ENSP00000368682.4:p.Leu259=
ENST00000475778.1:n.50T>G
NM_000444.5:c.777T>G	NP_000435.3:p.Leu259=
NM_001282754.1:c.777T>G	NP_001269683.1:p.Leu259=
XM_011545533.1:c.21T>G	XP_011543835.1:p.Leu7=
XM_011545534.1:c.21T>G	XP_011543836.1:p.Leu7=
XM_011545535.1:c.777T>G	XP_011543837.1:p.Leu259=
XM_017029579.1:c.21T>G	XP_016885068.1:p.Leu7=
XM_024452390.1:c.486T>G	XP_024308158.1:p.Leu162=
XR_001755695.1:n.1456T>G
NM_000444.6:c.777T>G MANE Select	NP_000435.3:p.Leu259=
NM_001282754.2:c.777T>G	NP_001269683.1:p.Leu259=