Canonical Allele Identifier: CA412574553

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151650T>G (hg19) ; chrX:g.22133533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133533T>G , CM000685.2:g.22133533T>G	GRCh38
NC_000023.10:g.22151650T>G , CM000685.1:g.22151650T>G	GRCh37
NC_000023.9:g.22061571T>G	NCBI36
NG_007563.2:g.105730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.987T>G
ENST00000379374.5:c.1313T>G MANE Select	ENSP00000368682.4:p.Leu438Trp
ENST00000379374.4:c.1313T>G	ENSP00000368682.4:p.Leu438Trp
NM_000444.5:c.1313T>G	NP_000435.3:p.Leu438Trp
NM_001282754.1:c.1313T>G	NP_001269683.1:p.Leu438Trp
XM_011545533.1:c.557T>G	XP_011543835.1:p.Leu186Trp
XM_011545534.1:c.557T>G	XP_011543836.1:p.Leu186Trp
XM_011545535.1:c.1313T>G	XP_011543837.1:p.Leu438Trp
XM_011545536.1:c.206T>G	XP_011543838.1:p.Leu69Trp
XM_011545536.2:c.206T>G	XP_011543838.1:p.Leu69Trp
XM_017029579.1:c.557T>G	XP_016885068.1:p.Leu186Trp
XM_024452390.1:c.1022T>G	XP_024308158.1:p.Leu341Trp
XR_001755695.1:n.1992T>G
NM_000444.6:c.1313T>G MANE Select	NP_000435.3:p.Leu438Trp
NM_001282754.2:c.1313T>G	NP_001269683.1:p.Leu438Trp