Canonical Allele Identifier: CA2693304311
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22076355-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076355G>A , CM000685.2:g.22076355G>A GRCh38
NC_000023.10:g.22094473G>A , CM000685.1:g.22094473G>A GRCh37
NC_000023.9:g.22004394G>A NCBI36
NG_007563.2:g.48553G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.776-33G>A
ENST00000683214.1:n.545-1121G>A
ENST00000684143.1:c.350-33G>A ENSP00000508264.1:n.350-33G>A
ENST00000684745.1:n.27-33G>A
ENST00000379374.5:c.350-33G>A MANE Select ENSP00000368682.4:n.350-33G>A
ENST00000379374.4:c.350-33G>A ENSP00000368682.4:n.350-33G>A
NM_000444.5:c.350-33G>A NP_000435.3:n.350-33G>A
NM_001282754.1:c.350-33G>A NP_001269683.1:n.350-33G>A
XM_011545535.1:c.350-33G>A XP_011543837.1:n.350-33G>A
XM_017029579.1:c.-93-14074G>A XP_016885068.1:n.-93-14074G>A
XM_024452390.1:c.59-33G>A XP_024308158.1:n.59-33G>A
XR_001755695.1:n.1029-33G>A
NM_000444.6:c.350-33G>A MANE Select NP_000435.3:n.350-33G>A
NM_001282754.2:c.350-33G>A NP_001269683.1:n.350-33G>A