Canonical Allele Identifier: CA2693303911
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032998-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032998C>T , CM000685.2:g.22032998C>T GRCh38
NC_000023.10:g.22051116C>T , CM000685.1:g.22051116C>T GRCh37
NC_000023.9:g.21961037C>T NCBI36
NG_007563.2:g.5196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.419C>T
ENST00000683214.1:n.419C>T
ENST00000684143.1:c.-8C>T ENSP00000508264.1:n.-8C>T
ENST00000379374.5:c.-8C>T MANE Select ENSP00000368682.4:n.-8C>T
ENST00000379374.4:c.-8C>T ENSP00000368682.4:n.-8C>T
NM_000444.5:c.-8C>T NP_000435.3:n.-8C>T
NM_001282754.1:c.-8C>T NP_001269683.1:n.-8C>T
XM_011545535.1:c.-8C>T XP_011543837.1:n.-8C>T
XR_001755695.1:n.672C>T
NM_000444.6:c.-8C>T MANE Select NP_000435.3:n.-8C>T
NM_001282754.2:c.-8C>T NP_001269683.1:n.-8C>T
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