Canonical Allele Identifier: CA10367958

Gene: PHEX

Linked Data

• dbSNP Id: rs767546324
• ExAC: X:22051201 T / G
• gnomAD v2: X-22051201-T-G
• MyVariant Identifiers: chrX:g.22051201T>G (hg19) ; chrX:g.22033083T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033083T>G , CM000685.2:g.22033083T>G	GRCh38
NC_000023.10:g.22051201T>G , CM000685.1:g.22051201T>G	GRCh37
NC_000023.9:g.21961122T>G	NCBI36
NG_007563.2:g.5281T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.504T>G
ENST00000683214.1:n.504T>G
ENST00000684143.1:c.78T>G	ENSP00000508264.1:p.Phe26Leu
ENST00000379374.5:c.78T>G MANE Select	ENSP00000368682.4:p.Phe26Leu
ENST00000379374.4:c.78T>G	ENSP00000368682.4:p.Phe26Leu
NM_000444.5:c.78T>G	NP_000435.3:p.Phe26Leu
NM_001282754.1:c.78T>G	NP_001269683.1:p.Phe26Leu
XM_011545535.1:c.78T>G	XP_011543837.1:p.Phe26Leu
XR_001755695.1:n.757T>G
NM_000444.6:c.78T>G MANE Select	NP_000435.3:p.Phe26Leu
NM_001282754.2:c.78T>G	NP_001269683.1:p.Phe26Leu