Canonical Allele Identifier: CA255557
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 10816
ClinVar RCV Id: RCV000011563
dbSNP Id: rs137853268
MyVariant Identifiers: chrX:g.22112198T>A (hg19) chrX:g.22094080T>A (hg38)
PubMed: PMID:7550339 PMID:9106524
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22094080T>A , CM000685.2:g.22094080T>A GRCh38
NC_000023.10:g.22112198T>A , CM000685.1:g.22112198T>A GRCh37
NC_000023.9:g.22022119T>A NCBI36
NG_007563.2:g.66278T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1256T>A
ENST00000684143.1:c.827T>A ENSP00000508264.1:p.Leu276Ter
ENST00000684745.1:n.504T>A
ENST00000379374.5:c.830T>A MANE Select ENSP00000368682.4:p.Leu277Ter
ENST00000379374.4:c.830T>A ENSP00000368682.4:p.Leu277Ter
ENST00000475778.1:n.103T>A
NM_000444.5:c.830T>A NP_000435.3:p.Leu277Ter
NM_001282754.1:c.830T>A NP_001269683.1:p.Leu277Ter
XM_011545533.1:c.74T>A XP_011543835.1:p.Leu25Ter
XM_011545534.1:c.74T>A XP_011543836.1:p.Leu25Ter
XM_011545535.1:c.830T>A XP_011543837.1:p.Leu277Ter
XM_017029579.1:c.74T>A XP_016885068.1:p.Leu25Ter
XM_024452390.1:c.539T>A XP_024308158.1:p.Leu180Ter
XR_001755695.1:n.1509T>A
NM_000444.6:c.830T>A MANE Select NP_000435.3:p.Leu277Ter
NM_001282754.2:c.830T>A NP_001269683.1:p.Leu277Ter
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