Canonical Allele Identifier: CA412567654

Gene: PHEX

Linked Data

• dbSNP Id: rs1569369653
• COSMIC: COSM1682447
• MyVariant Identifiers: chrX:g.22065243G>T (hg19) ; chrX:g.22047125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047125G>T , CM000685.2:g.22047125G>T	GRCh38
NC_000023.10:g.22065243G>T , CM000685.1:g.22065243G>T	GRCh37
NC_000023.9:g.21975164G>T	NCBI36
NG_007563.2:g.19323G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.689G>T
ENST00000683214.1:n.544+14002G>T
ENST00000684143.1:c.263G>T	ENSP00000508264.1:p.Trp88Leu
ENST00000379374.5:c.263G>T MANE Select	ENSP00000368682.4:p.Trp88Leu
ENST00000379374.4:c.263G>T	ENSP00000368682.4:p.Trp88Leu
NM_000444.5:c.263G>T	NP_000435.3:p.Trp88Leu
NM_001282754.1:c.263G>T	NP_001269683.1:p.Trp88Leu
XM_011545535.1:c.263G>T	XP_011543837.1:p.Trp88Leu
XM_024452390.1:c.-29G>T	XP_024308158.1:n.-29G>T
XR_001755695.1:n.942G>T
NM_000444.6:c.263G>T MANE Select	NP_000435.3:p.Trp88Leu
NM_001282754.2:c.263G>T	NP_001269683.1:p.Trp88Leu