Canonical Allele Identifier: CA2693303841
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032900-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032900T>G , CM000685.2:g.22032900T>G GRCh38
NC_000023.10:g.22051018T>G , CM000685.1:g.22051018T>G GRCh37
NC_000023.9:g.21960939T>G NCBI36
NG_007563.2:g.5098T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.321T>G
ENST00000683214.1:n.321T>G
ENST00000684143.1:c.-106T>G ENSP00000508264.1:n.-106T>G
ENST00000379374.5:c.-106T>G MANE Select ENSP00000368682.4:n.-106T>G
ENST00000379374.4:c.-106T>G ENSP00000368682.4:n.-106T>G
NM_000444.5:c.-106T>G NP_000435.3:n.-106T>G
NM_001282754.1:c.-106T>G NP_001269683.1:n.-106T>G
XM_011545535.1:c.-106T>G XP_011543837.1:n.-106T>G
XR_001755695.1:n.574T>G
NM_000444.6:c.-106T>G MANE Select NP_000435.3:n.-106T>G
NM_001282754.2:c.-106T>G NP_001269683.1:n.-106T>G