Canonical Allele Identifier: CA2693303894
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032972-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032972A>C , CM000685.2:g.22032972A>C GRCh38
NC_000023.10:g.22051090A>C , CM000685.1:g.22051090A>C GRCh37
NC_000023.9:g.21961011A>C NCBI36
NG_007563.2:g.5170A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.393A>C
ENST00000683214.1:n.393A>C
ENST00000684143.1:c.-34A>C ENSP00000508264.1:n.-34A>C
ENST00000379374.5:c.-34A>C MANE Select ENSP00000368682.4:n.-34A>C
ENST00000379374.4:c.-34A>C ENSP00000368682.4:n.-34A>C
NM_000444.5:c.-34A>C NP_000435.3:n.-34A>C
NM_001282754.1:c.-34A>C NP_001269683.1:n.-34A>C
XM_011545535.1:c.-34A>C XP_011543837.1:n.-34A>C
XR_001755695.1:n.646A>C
NM_000444.6:c.-34A>C MANE Select NP_000435.3:n.-34A>C
NM_001282754.2:c.-34A>C NP_001269683.1:n.-34A>C
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