Canonical Allele Identifier: CA2693304323
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22076377-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076377A>T , CM000685.2:g.22076377A>T GRCh38
NC_000023.10:g.22094495A>T , CM000685.1:g.22094495A>T GRCh37
NC_000023.9:g.22004416A>T NCBI36
NG_007563.2:g.48575A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.776-11A>T
ENST00000683214.1:n.545-1099A>T
ENST00000684143.1:c.350-11A>T ENSP00000508264.1:n.350-11A>T
ENST00000684745.1:n.27-11A>T
ENST00000379374.5:c.350-11A>T MANE Select ENSP00000368682.4:n.350-11A>T
ENST00000379374.4:c.350-11A>T ENSP00000368682.4:n.350-11A>T
NM_000444.5:c.350-11A>T NP_000435.3:n.350-11A>T
NM_001282754.1:c.350-11A>T NP_001269683.1:n.350-11A>T
XM_011545535.1:c.350-11A>T XP_011543837.1:n.350-11A>T
XM_017029579.1:c.-93-14052A>T XP_016885068.1:n.-93-14052A>T
XM_024452390.1:c.59-11A>T XP_024308158.1:n.59-11A>T
XR_001755695.1:n.1029-11A>T
NM_000444.6:c.350-11A>T MANE Select NP_000435.3:n.350-11A>T
NM_001282754.2:c.350-11A>T NP_001269683.1:n.350-11A>T