Canonical Allele Identifier: CA2693303851
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032906-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032906A>T , CM000685.2:g.22032906A>T GRCh38
NC_000023.10:g.22051024A>T , CM000685.1:g.22051024A>T GRCh37
NC_000023.9:g.21960945A>T NCBI36
NG_007563.2:g.5104A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.327A>T
ENST00000683214.1:n.327A>T
ENST00000684143.1:c.-100A>T ENSP00000508264.1:n.-100A>T
ENST00000379374.5:c.-100A>T MANE Select ENSP00000368682.4:n.-100A>T
ENST00000379374.4:c.-100A>T ENSP00000368682.4:n.-100A>T
NM_000444.5:c.-100A>T NP_000435.3:n.-100A>T
NM_001282754.1:c.-100A>T NP_001269683.1:n.-100A>T
XM_011545535.1:c.-100A>T XP_011543837.1:n.-100A>T
XR_001755695.1:n.580A>T
NM_000444.6:c.-100A>T MANE Select NP_000435.3:n.-100A>T
NM_001282754.2:c.-100A>T NP_001269683.1:n.-100A>T