Canonical Allele Identifier: CA16043252
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372631
ClinVar RCV Id: RCV000412709
dbSNP Id: rs1057517896
MyVariant Identifiers: chrX:g.22129680T>C (hg19) chrX:g.22111562T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22111562T>C , CM000685.2:g.22111562T>C GRCh38
NC_000023.10:g.22129680T>C , CM000685.1:g.22129680T>C GRCh37
NC_000023.9:g.22039601T>C NCBI36
NG_007563.2:g.83760T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1170+2T>C ENSP00000508264.1:n.1170+2T>C
ENST00000684745.1:n.847+2T>C
ENST00000379374.5:c.1173+2T>C MANE Select ENSP00000368682.4:n.1173+2T>C
ENST00000379374.4:c.1173+2T>C ENSP00000368682.4:n.1173+2T>C
NM_000444.5:c.1173+2T>C NP_000435.3:n.1173+2T>C
NM_001282754.1:c.1173+2T>C NP_001269683.1:n.1173+2T>C
XM_011545533.1:c.417+2T>C XP_011543835.1:n.417+2T>C
XM_011545534.1:c.417+2T>C XP_011543836.1:n.417+2T>C
XM_011545535.1:c.1173+2T>C XP_011543837.1:n.1173+2T>C
XM_011545536.1:c.66+2T>C XP_011543838.1:n.66+2T>C
XM_011545536.2:c.66+2T>C XP_011543838.1:n.66+2T>C
XM_017029579.1:c.417+2T>C XP_016885068.1:n.417+2T>C
XM_024452390.1:c.882+2T>C XP_024308158.1:n.882+2T>C
XR_001755695.1:n.1852+2T>C
NM_000444.6:c.1173+2T>C MANE Select NP_000435.3:n.1173+2T>C
NM_001282754.2:c.1173+2T>C NP_001269683.1:n.1173+2T>C
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