Canonical Allele Identifier: CA412567579

Gene: PHEX

Linked Data

• ClinVar Variation Id: 936592
• ClinVar RCV Id: RCV001205422
• dbSNP Id: rs1556014263
• MyVariant Identifiers: chrX:g.22065210G>C (hg19) ; chrX:g.22047092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047092G>C , CM000685.2:g.22047092G>C	GRCh38
NC_000023.10:g.22065210G>C , CM000685.1:g.22065210G>C	GRCh37
NC_000023.9:g.21975131G>C	NCBI36
NG_007563.2:g.19290G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.656G>C
ENST00000683214.1:n.544+13969G>C
ENST00000684143.1:c.230G>C	ENSP00000508264.1:p.Cys77Ser
ENST00000379374.5:c.230G>C MANE Select	ENSP00000368682.4:p.Cys77Ser
ENST00000379374.4:c.230G>C	ENSP00000368682.4:p.Cys77Ser
NM_000444.5:c.230G>C	NP_000435.3:p.Cys77Ser
NM_001282754.1:c.230G>C	NP_001269683.1:p.Cys77Ser
XM_011545535.1:c.230G>C	XP_011543837.1:p.Cys77Ser
XM_024452390.1:c.-62G>C	XP_024308158.1:n.-62G>C
XR_001755695.1:n.909G>C
NM_000444.6:c.230G>C MANE Select	NP_000435.3:p.Cys77Ser
NM_001282754.2:c.230G>C	NP_001269683.1:p.Cys77Ser