Canonical Allele Identifier: CA412564213

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22051205G>C (hg19) ; chrX:g.22033087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033087G>C , CM000685.2:g.22033087G>C	GRCh38
NC_000023.10:g.22051205G>C , CM000685.1:g.22051205G>C	GRCh37
NC_000023.9:g.21961126G>C	NCBI36
NG_007563.2:g.5285G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.508G>C
ENST00000683214.1:n.508G>C
ENST00000684143.1:c.82G>C	ENSP00000508264.1:p.Gly28Arg
ENST00000379374.5:c.82G>C MANE Select	ENSP00000368682.4:p.Gly28Arg
ENST00000379374.4:c.82G>C	ENSP00000368682.4:p.Gly28Arg
NM_000444.5:c.82G>C	NP_000435.3:p.Gly28Arg
NM_001282754.1:c.82G>C	NP_001269683.1:p.Gly28Arg
XM_011545535.1:c.82G>C	XP_011543837.1:p.Gly28Arg
XR_001755695.1:n.761G>C
NM_000444.6:c.82G>C MANE Select	NP_000435.3:p.Gly28Arg
NM_001282754.2:c.82G>C	NP_001269683.1:p.Gly28Arg