Canonical Allele Identifier: CA2693303910
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032997-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032997G>A , CM000685.2:g.22032997G>A GRCh38
NC_000023.10:g.22051115G>A , CM000685.1:g.22051115G>A GRCh37
NC_000023.9:g.21961036G>A NCBI36
NG_007563.2:g.5195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.418G>A
ENST00000683214.1:n.418G>A
ENST00000684143.1:c.-9G>A ENSP00000508264.1:n.-9G>A
ENST00000379374.5:c.-9G>A MANE Select ENSP00000368682.4:n.-9G>A
ENST00000379374.4:c.-9G>A ENSP00000368682.4:n.-9G>A
NM_000444.5:c.-9G>A NP_000435.3:n.-9G>A
NM_001282754.1:c.-9G>A NP_001269683.1:n.-9G>A
XM_011545535.1:c.-9G>A XP_011543837.1:n.-9G>A
XR_001755695.1:n.671G>A
NM_000444.6:c.-9G>A MANE Select NP_000435.3:n.-9G>A
NM_001282754.2:c.-9G>A NP_001269683.1:n.-9G>A