Canonical Allele Identifier: CA16043225
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372457
ClinVar RCV Id: RCV000413207
dbSNP Id: rs1057517793
MyVariant Identifiers: chrX:g.22132582C>T (hg19) chrX:g.22114464C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22114464C>T , CM000685.2:g.22114464C>T GRCh38
NC_000023.10:g.22132582C>T , CM000685.1:g.22132582C>T GRCh37
NC_000023.9:g.22042503C>T NCBI36
NG_007563.2:g.86662C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1177C>T ENSP00000508264.1:p.Gln393Ter
ENST00000684745.1:n.854C>T
ENST00000379374.5:c.1180C>T MANE Select ENSP00000368682.4:p.Gln394Ter
ENST00000379374.4:c.1180C>T ENSP00000368682.4:p.Gln394Ter
NM_000444.5:c.1180C>T NP_000435.3:p.Gln394Ter
NM_001282754.1:c.1180C>T NP_001269683.1:p.Gln394Ter
XM_011545533.1:c.424C>T XP_011543835.1:p.Gln142Ter
XM_011545534.1:c.424C>T XP_011543836.1:p.Gln142Ter
XM_011545535.1:c.1180C>T XP_011543837.1:p.Gln394Ter
XM_011545536.1:c.73C>T XP_011543838.1:p.Gln25Ter
XM_011545536.2:c.73C>T XP_011543838.1:p.Gln25Ter
XM_017029579.1:c.424C>T XP_016885068.1:p.Gln142Ter
XM_024452390.1:c.889C>T XP_024308158.1:p.Gln297Ter
XR_001755695.1:n.1859C>T
NM_000444.6:c.1180C>T MANE Select NP_000435.3:p.Gln394Ter
NM_001282754.2:c.1180C>T NP_001269683.1:p.Gln394Ter
Search 100 bp 5'
Search 100 bp 3'