Canonical Allele Identifier: CA412574831

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196414T>C (hg19) ; chrX:g.22178297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178297T>C , CM000685.2:g.22178297T>C	GRCh38
NC_000023.10:g.22196414T>C , CM000685.1:g.22196414T>C	GRCh37
NC_000023.9:g.22106335T>C	NCBI36
NG_007563.2:g.150494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.61T>C	ENSP00000508003.1:p.Phe21Leu
ENST00000683162.1:c.61T>C	ENSP00000508059.1:p.Phe21Leu
ENST00000683289.1:c.61T>C	ENSP00000508195.1:p.Phe21Leu
ENST00000683917.1:n.291T>C
ENST00000684356.1:c.61T>C	ENSP00000507619.1:p.Phe21Leu
ENST00000684745.1:n.1181T>C
ENST00000379374.5:c.1507T>C MANE Select	ENSP00000368682.4:p.Phe503Leu
ENST00000379374.4:c.1507T>C	ENSP00000368682.4:p.Phe503Leu
NM_000444.5:c.1507T>C	NP_000435.3:p.Phe503Leu
NM_001282754.1:c.1507T>C	NP_001269683.1:p.Phe503Leu
XM_011545533.1:c.751T>C	XP_011543835.1:p.Phe251Leu
XM_011545534.1:c.751T>C	XP_011543836.1:p.Phe251Leu
XM_011545536.1:c.400T>C	XP_011543838.1:p.Phe134Leu
XM_011545536.2:c.400T>C	XP_011543838.1:p.Phe134Leu
XM_017029579.1:c.751T>C	XP_016885068.1:p.Phe251Leu
XM_024452390.1:c.1216T>C	XP_024308158.1:p.Phe406Leu
XR_001755695.1:n.2347T>C
NM_000444.6:c.1507T>C MANE Select	NP_000435.3:p.Phe503Leu
NM_001282754.2:c.1507T>C	NP_001269683.1:p.Phe503Leu