Canonical Allele Identifier: CA412572303

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112123T>G (hg19) ; chrX:g.22094005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094005T>G , CM000685.2:g.22094005T>G	GRCh38
NC_000023.10:g.22112123T>G , CM000685.1:g.22112123T>G	GRCh37
NC_000023.9:g.22022044T>G	NCBI36
NG_007563.2:g.66203T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1181T>G
ENST00000684143.1:c.752T>G	ENSP00000508264.1:p.Phe251Cys
ENST00000684745.1:n.429T>G
ENST00000379374.5:c.755T>G MANE Select	ENSP00000368682.4:p.Phe252Cys
ENST00000379374.4:c.755T>G	ENSP00000368682.4:p.Phe252Cys
ENST00000475778.1:n.28T>G
NM_000444.5:c.755T>G	NP_000435.3:p.Phe252Cys
NM_001282754.1:c.755T>G	NP_001269683.1:p.Phe252Cys
XM_011545533.1:c.-2T>G	XP_011543835.1:n.-2T>G
XM_011545534.1:c.-2T>G	XP_011543836.1:n.-2T>G
XM_011545535.1:c.755T>G	XP_011543837.1:p.Phe252Cys
XM_017029579.1:c.-2T>G	XP_016885068.1:n.-2T>G
XM_024452390.1:c.464T>G	XP_024308158.1:p.Phe155Cys
XR_001755695.1:n.1434T>G
NM_000444.6:c.755T>G MANE Select	NP_000435.3:p.Phe252Cys
NM_001282754.2:c.755T>G	NP_001269683.1:p.Phe252Cys