Canonical Allele Identifier: CA412574860

Gene: PHEX

Linked Data

• ClinVar Variation Id: 958120
• ClinVar RCV Id: RCV001231229
• dbSNP Id: rs1933773762
• MyVariant Identifiers: chrX:g.22196427T>C (hg19) ; chrX:g.22178310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178310T>C , CM000685.2:g.22178310T>C	GRCh38
NC_000023.10:g.22196427T>C , CM000685.1:g.22196427T>C	GRCh37
NC_000023.9:g.22106348T>C	NCBI36
NG_007563.2:g.150507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.74T>C	ENSP00000508003.1:p.Leu25Pro
ENST00000683162.1:c.74T>C	ENSP00000508059.1:p.Leu25Pro
ENST00000683289.1:c.74T>C	ENSP00000508195.1:p.Leu25Pro
ENST00000683917.1:n.304T>C
ENST00000684356.1:c.74T>C	ENSP00000507619.1:p.Leu25Pro
ENST00000684745.1:n.1194T>C
ENST00000379374.5:c.1520T>C MANE Select	ENSP00000368682.4:p.Leu507Pro
ENST00000379374.4:c.1520T>C	ENSP00000368682.4:p.Leu507Pro
NM_000444.5:c.1520T>C	NP_000435.3:p.Leu507Pro
NM_001282754.1:c.1520T>C	NP_001269683.1:p.Leu507Pro
XM_011545533.1:c.764T>C	XP_011543835.1:p.Leu255Pro
XM_011545534.1:c.764T>C	XP_011543836.1:p.Leu255Pro
XM_011545536.1:c.413T>C	XP_011543838.1:p.Leu138Pro
XM_011545536.2:c.413T>C	XP_011543838.1:p.Leu138Pro
XM_017029579.1:c.764T>C	XP_016885068.1:p.Leu255Pro
XM_024452390.1:c.1229T>C	XP_024308158.1:p.Leu410Pro
XR_001755695.1:n.2360T>C
NM_000444.6:c.1520T>C MANE Select	NP_000435.3:p.Leu507Pro
NM_001282754.2:c.1520T>C	NP_001269683.1:p.Leu507Pro