Canonical Allele Identifier: CA412567548

Gene: PHEX

Linked Data

• COSMIC: COSM273105
• MyVariant Identifiers: chrX:g.22065195T>G (hg19) ; chrX:g.22047077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047077T>G , CM000685.2:g.22047077T>G	GRCh38
NC_000023.10:g.22065195T>G , CM000685.1:g.22065195T>G	GRCh37
NC_000023.9:g.21975116T>G	NCBI36
NG_007563.2:g.19275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.641T>G
ENST00000683214.1:n.544+13954T>G
ENST00000684143.1:c.215T>G	ENSP00000508264.1:p.Leu72Arg
ENST00000379374.5:c.215T>G MANE Select	ENSP00000368682.4:p.Leu72Arg
ENST00000379374.4:c.215T>G	ENSP00000368682.4:p.Leu72Arg
NM_000444.5:c.215T>G	NP_000435.3:p.Leu72Arg
NM_001282754.1:c.215T>G	NP_001269683.1:p.Leu72Arg
XM_011545535.1:c.215T>G	XP_011543837.1:p.Leu72Arg
XM_024452390.1:c.-77T>G	XP_024308158.1:n.-77T>G
XR_001755695.1:n.894T>G
NM_000444.6:c.215T>G MANE Select	NP_000435.3:p.Leu72Arg
NM_001282754.2:c.215T>G	NP_001269683.1:p.Leu72Arg