Canonical Allele Identifier: CA2579571864
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22076308-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076308G>T , CM000685.2:g.22076308G>T GRCh38
NC_000023.10:g.22094426G>T , CM000685.1:g.22094426G>T GRCh37
NC_000023.9:g.22004347G>T NCBI36
NG_007563.2:g.48506G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.776-80G>T
ENST00000683214.1:n.545-1168G>T
ENST00000684143.1:c.350-80G>T ENSP00000508264.1:n.350-80G>T
ENST00000684745.1:n.27-80G>T
ENST00000379374.5:c.350-80G>T MANE Select ENSP00000368682.4:n.350-80G>T
ENST00000379374.4:c.350-80G>T ENSP00000368682.4:n.350-80G>T
NM_000444.5:c.350-80G>T NP_000435.3:n.350-80G>T
NM_001282754.1:c.350-80G>T NP_001269683.1:n.350-80G>T
XM_011545535.1:c.350-80G>T XP_011543837.1:n.350-80G>T
XM_017029579.1:c.-93-14121G>T XP_016885068.1:n.-93-14121G>T
XM_024452390.1:c.59-80G>T XP_024308158.1:n.59-80G>T
XR_001755695.1:n.1029-80G>T
NM_000444.6:c.350-80G>T MANE Select NP_000435.3:n.350-80G>T
NM_001282754.2:c.350-80G>T NP_001269683.1:n.350-80G>T