Canonical Allele Identifier: CA2693304297
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22076325-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076325A>G , CM000685.2:g.22076325A>G GRCh38
NC_000023.10:g.22094443A>G , CM000685.1:g.22094443A>G GRCh37
NC_000023.9:g.22004364A>G NCBI36
NG_007563.2:g.48523A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.776-63A>G
ENST00000683214.1:n.545-1151A>G
ENST00000684143.1:c.350-63A>G ENSP00000508264.1:n.350-63A>G
ENST00000684745.1:n.27-63A>G
ENST00000379374.5:c.350-63A>G MANE Select ENSP00000368682.4:n.350-63A>G
ENST00000379374.4:c.350-63A>G ENSP00000368682.4:n.350-63A>G
NM_000444.5:c.350-63A>G NP_000435.3:n.350-63A>G
NM_001282754.1:c.350-63A>G NP_001269683.1:n.350-63A>G
XM_011545535.1:c.350-63A>G XP_011543837.1:n.350-63A>G
XM_017029579.1:c.-93-14104A>G XP_016885068.1:n.-93-14104A>G
XM_024452390.1:c.59-63A>G XP_024308158.1:n.59-63A>G
XR_001755695.1:n.1029-63A>G
NM_000444.6:c.350-63A>G MANE Select NP_000435.3:n.350-63A>G
NM_001282754.2:c.350-63A>G NP_001269683.1:n.350-63A>G