Canonical Allele Identifier: CA2693304873
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22096937-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096937A>G , CM000685.2:g.22096937A>G GRCh38
NC_000023.10:g.22115055A>G , CM000685.1:g.22115055A>G GRCh37
NC_000023.9:g.22024976A>G NCBI36
NG_007563.2:g.69135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1276-18A>G
ENST00000684143.1:c.847-18A>G ENSP00000508264.1:n.847-18A>G
ENST00000684745.1:n.524-18A>G
ENST00000379374.5:c.850-18A>G MANE Select ENSP00000368682.4:n.850-18A>G
ENST00000379374.4:c.850-18A>G ENSP00000368682.4:n.850-18A>G
ENST00000475778.1:n.123-18A>G
NM_000444.5:c.850-18A>G NP_000435.3:n.850-18A>G
NM_001282754.1:c.850-18A>G NP_001269683.1:n.850-18A>G
XM_011545533.1:c.94-18A>G XP_011543835.1:n.94-18A>G
XM_011545534.1:c.94-18A>G XP_011543836.1:n.94-18A>G
XM_011545535.1:c.850-18A>G XP_011543837.1:n.850-18A>G
XM_017029579.1:c.94-18A>G XP_016885068.1:n.94-18A>G
XM_024452390.1:c.559-18A>G XP_024308158.1:n.559-18A>G
XR_001755695.1:n.1529-18A>G
NM_000444.6:c.850-18A>G MANE Select NP_000435.3:n.850-18A>G
NM_001282754.2:c.850-18A>G NP_001269683.1:n.850-18A>G