Canonical Allele Identifier: CA353714
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 242795
ClinVar RCV Id: RCV001857790
dbSNP Id: rs267606945
MyVariant Identifiers: chrX:g.22112123T>C (hg19) chrX:g.22094005T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22094005T>C , CM000685.2:g.22094005T>C GRCh38
NC_000023.10:g.22112123T>C , CM000685.1:g.22112123T>C GRCh37
NC_000023.9:g.22022044T>C NCBI36
NG_007563.2:g.66203T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1181T>C
ENST00000684143.1:c.752T>C ENSP00000508264.1:p.Phe251Ser
ENST00000684745.1:n.429T>C
ENST00000379374.5:c.755T>C MANE Select ENSP00000368682.4:p.Phe252Ser
ENST00000379374.4:c.755T>C ENSP00000368682.4:p.Phe252Ser
ENST00000475778.1:n.28T>C
NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser
NM_001282754.1:c.755T>C NP_001269683.1:p.Phe252Ser
XM_011545533.1:c.-2T>C XP_011543835.1:n.-2T>C
XM_011545534.1:c.-2T>C XP_011543836.1:n.-2T>C
XM_011545535.1:c.755T>C XP_011543837.1:p.Phe252Ser
XM_017029579.1:c.-2T>C XP_016885068.1:n.-2T>C
XM_024452390.1:c.464T>C XP_024308158.1:p.Phe155Ser
XR_001755695.1:n.1434T>C
NM_000444.6:c.755T>C MANE Select NP_000435.3:p.Phe252Ser
NM_001282754.2:c.755T>C NP_001269683.1:p.Phe252Ser
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