Canonical Allele Identifier: CA16043304

Gene: PHEX

Linked Data

• ClinVar Variation Id: 372451
• ClinVar RCV Id: RCV000412890
• dbSNP Id: rs1057517788
• MyVariant Identifiers: chrX:g.22094593G>C (hg19) ; chrX:g.22076475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076475G>C , CM000685.2:g.22076475G>C	GRCh38
NC_000023.10:g.22094593G>C , CM000685.1:g.22094593G>C	GRCh37
NC_000023.9:g.22004514G>C	NCBI36
NG_007563.2:g.48673G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.862+1G>C
ENST00000683214.1:n.545-1001G>C
ENST00000684143.1:c.436+1G>C	ENSP00000508264.1:n.436+1G>C
ENST00000684745.1:n.113+1G>C
ENST00000379374.5:c.436+1G>C MANE Select	ENSP00000368682.4:n.436+1G>C
ENST00000379374.4:c.436+1G>C	ENSP00000368682.4:n.436+1G>C
NM_000444.5:c.436+1G>C	NP_000435.3:n.436+1G>C
NM_001282754.1:c.436+1G>C	NP_001269683.1:n.436+1G>C
XM_011545535.1:c.436+1G>C	XP_011543837.1:n.436+1G>C
XM_017029579.1:c.-93-13954G>C	XP_016885068.1:n.-93-13954G>C
XM_024452390.1:c.145+1G>C	XP_024308158.1:n.145+1G>C
XR_001755695.1:n.1115+1G>C
NM_000444.6:c.436+1G>C MANE Select	NP_000435.3:n.436+1G>C
NM_001282754.2:c.436+1G>C	NP_001269683.1:n.436+1G>C