Canonical Allele Identifier: CA2579591354
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22096935-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096935C>A , CM000685.2:g.22096935C>A GRCh38
NC_000023.10:g.22115053C>A , CM000685.1:g.22115053C>A GRCh37
NC_000023.9:g.22024974C>A NCBI36
NG_007563.2:g.69133C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1276-20C>A
ENST00000684143.1:c.847-20C>A ENSP00000508264.1:n.847-20C>A
ENST00000684745.1:n.524-20C>A
ENST00000379374.5:c.850-20C>A MANE Select ENSP00000368682.4:n.850-20C>A
ENST00000379374.4:c.850-20C>A ENSP00000368682.4:n.850-20C>A
ENST00000475778.1:n.123-20C>A
NM_000444.5:c.850-20C>A NP_000435.3:n.850-20C>A
NM_001282754.1:c.850-20C>A NP_001269683.1:n.850-20C>A
XM_011545533.1:c.94-20C>A XP_011543835.1:n.94-20C>A
XM_011545534.1:c.94-20C>A XP_011543836.1:n.94-20C>A
XM_011545535.1:c.850-20C>A XP_011543837.1:n.850-20C>A
XM_017029579.1:c.94-20C>A XP_016885068.1:n.94-20C>A
XM_024452390.1:c.559-20C>A XP_024308158.1:n.559-20C>A
XR_001755695.1:n.1529-20C>A
NM_000444.6:c.850-20C>A MANE Select NP_000435.3:n.850-20C>A
NM_001282754.2:c.850-20C>A NP_001269683.1:n.850-20C>A