Canonical Allele Identifier: CA16043304
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372451
ClinVar RCV Id: RCV000412890
dbSNP Id: rs1057517788

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
NM_000444.5:c.436+1G>C VV NP_000435.3:p.=
NM_001282754.1:c.436+1G>C VV NP_001269683.1:p.=
XM_011545535.1:c.436+1G>C XP_011543837.1:p.=
XM_017029579.1:c.-93-13954G>C XP_016885068.1:p.=
XM_024452390.1:c.145+1G>C XP_024308158.1:p.=
XR_001755695.1:n.1115+1G>C
NM_000444.6:c.436+1G>C VV MANE Preferred NP_000435.3:p.=
ENST00000379374.4:c.436+1G>C ENSP00000368682.4:p.=