Canonical Allele Identifier: CA260510

Gene: PHEX

Linked Data

• ClinVar Variation Id: 36678
• ClinVar RCV Id: RCV000030357 ; RCV000486450
• dbSNP Id: rs193922459
• MyVariant Identifiers: chrX:g.22065330G>C (hg19) ; chrX:g.22047212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047212G>C , CM000685.2:g.22047212G>C	GRCh38
NC_000023.10:g.22065330G>C , CM000685.1:g.22065330G>C	GRCh37
NC_000023.9:g.21975251G>C	NCBI36
NG_007563.2:g.19410G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.775+1G>C
ENST00000683214.1:n.544+14089G>C
ENST00000684143.1:c.349+1G>C	ENSP00000508264.1:n.349+1G>C
ENST00000379374.5:c.349+1G>C MANE Select	ENSP00000368682.4:n.349+1G>C
ENST00000379374.4:c.349+1G>C	ENSP00000368682.4:n.349+1G>C
NM_000444.5:c.349+1G>C	NP_000435.3:n.349+1G>C
NM_001282754.1:c.349+1G>C	NP_001269683.1:n.349+1G>C
XM_011545535.1:c.349+1G>C	XP_011543837.1:n.349+1G>C
XM_017029579.1:c.-94+1G>C	XP_016885068.1:n.-94+1G>C
XM_024452390.1:c.58+1G>C	XP_024308158.1:n.58+1G>C
XR_001755695.1:n.1028+1G>C
NM_000444.6:c.349+1G>C MANE Select	NP_000435.3:n.349+1G>C
NM_001282754.2:c.349+1G>C	NP_001269683.1:n.349+1G>C