Canonical Allele Identifier: CA412572603

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22115106G>C (hg19) ; chrX:g.22096988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096988G>C , CM000685.2:g.22096988G>C	GRCh38
NC_000023.10:g.22115106G>C , CM000685.1:g.22115106G>C	GRCh37
NC_000023.9:g.22025027G>C	NCBI36
NG_007563.2:g.69186G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1309G>C
ENST00000684143.1:c.880G>C	ENSP00000508264.1:p.Ala294Pro
ENST00000684745.1:n.557G>C
ENST00000379374.5:c.883G>C MANE Select	ENSP00000368682.4:p.Ala295Pro
ENST00000379374.4:c.883G>C	ENSP00000368682.4:p.Ala295Pro
ENST00000475778.1:n.156G>C
NM_000444.5:c.883G>C	NP_000435.3:p.Ala295Pro
NM_001282754.1:c.883G>C	NP_001269683.1:p.Ala295Pro
XM_011545533.1:c.127G>C	XP_011543835.1:p.Ala43Pro
XM_011545534.1:c.127G>C	XP_011543836.1:p.Ala43Pro
XM_011545535.1:c.883G>C	XP_011543837.1:p.Ala295Pro
XM_017029579.1:c.127G>C	XP_016885068.1:p.Ala43Pro
XM_024452390.1:c.592G>C	XP_024308158.1:p.Ala198Pro
XR_001755695.1:n.1562G>C
NM_000444.6:c.883G>C MANE Select	NP_000435.3:p.Ala295Pro
NM_001282754.2:c.883G>C	NP_001269683.1:p.Ala295Pro