Canonical Allele Identifier: CA412572261

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112104C>G (hg19) ; chrX:g.22093986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093986C>G , CM000685.2:g.22093986C>G	GRCh38
NC_000023.10:g.22112104C>G , CM000685.1:g.22112104C>G	GRCh37
NC_000023.9:g.22022025C>G	NCBI36
NG_007563.2:g.66184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1162C>G
ENST00000684143.1:c.733C>G	ENSP00000508264.1:p.Arg245Gly
ENST00000684745.1:n.410C>G
ENST00000379374.5:c.736C>G MANE Select	ENSP00000368682.4:p.Arg246Gly
ENST00000379374.4:c.736C>G	ENSP00000368682.4:p.Arg246Gly
ENST00000475778.1:n.9C>G
NM_000444.5:c.736C>G	NP_000435.3:p.Arg246Gly
NM_001282754.1:c.736C>G	NP_001269683.1:p.Arg246Gly
XM_011545533.1:c.-21C>G	XP_011543835.1:n.-21C>G
XM_011545534.1:c.-21C>G	XP_011543836.1:n.-21C>G
XM_011545535.1:c.736C>G	XP_011543837.1:p.Arg246Gly
XM_017029579.1:c.-21C>G	XP_016885068.1:n.-21C>G
XM_024452390.1:c.445C>G	XP_024308158.1:p.Arg149Gly
XR_001755695.1:n.1415C>G
NM_000444.6:c.736C>G MANE Select	NP_000435.3:p.Arg246Gly
NM_001282754.2:c.736C>G	NP_001269683.1:p.Arg246Gly