Canonical Allele Identifier: CA412571039

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22094515A>C (hg19) ; chrX:g.22076397A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076397A>C , CM000685.2:g.22076397A>C	GRCh38
NC_000023.10:g.22094515A>C , CM000685.1:g.22094515A>C	GRCh37
NC_000023.9:g.22004436A>C	NCBI36
NG_007563.2:g.48595A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.785A>C
ENST00000683214.1:n.545-1079A>C
ENST00000684143.1:c.359A>C	ENSP00000508264.1:p.Glu120Ala
ENST00000684745.1:n.36A>C
ENST00000379374.5:c.359A>C MANE Select	ENSP00000368682.4:p.Glu120Ala
ENST00000379374.4:c.359A>C	ENSP00000368682.4:p.Glu120Ala
NM_000444.5:c.359A>C	NP_000435.3:p.Glu120Ala
NM_001282754.1:c.359A>C	NP_001269683.1:p.Glu120Ala
XM_011545535.1:c.359A>C	XP_011543837.1:p.Glu120Ala
XM_017029579.1:c.-93-14032A>C	XP_016885068.1:n.-93-14032A>C
XM_024452390.1:c.68A>C	XP_024308158.1:p.Glu23Ala
XR_001755695.1:n.1038A>C
NM_000444.6:c.359A>C MANE Select	NP_000435.3:p.Glu120Ala
NM_001282754.2:c.359A>C	NP_001269683.1:p.Glu120Ala