Canonical Allele Identifier: CA2693303896
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032976-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032976T>C , CM000685.2:g.22032976T>C GRCh38
NC_000023.10:g.22051094T>C , CM000685.1:g.22051094T>C GRCh37
NC_000023.9:g.21961015T>C NCBI36
NG_007563.2:g.5174T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.397T>C
ENST00000683214.1:n.397T>C
ENST00000684143.1:c.-30T>C ENSP00000508264.1:n.-30T>C
ENST00000379374.5:c.-30T>C MANE Select ENSP00000368682.4:n.-30T>C
ENST00000379374.4:c.-30T>C ENSP00000368682.4:n.-30T>C
NM_000444.5:c.-30T>C NP_000435.3:n.-30T>C
NM_001282754.1:c.-30T>C NP_001269683.1:n.-30T>C
XM_011545535.1:c.-30T>C XP_011543837.1:n.-30T>C
XR_001755695.1:n.650T>C
NM_000444.6:c.-30T>C MANE Select NP_000435.3:n.-30T>C
NM_001282754.2:c.-30T>C NP_001269683.1:n.-30T>C
Search 100 bp 5'
Search 100 bp 3'