Canonical Allele Identifier: CA16043231
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372646
ClinVar RCV Id: RCV000413016
dbSNP Id: rs1057517904
MyVariant Identifiers: chrX:g.22151650T>C (hg19) chrX:g.22133533T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133533T>C , CM000685.2:g.22133533T>C GRCh38
NC_000023.10:g.22151650T>C , CM000685.1:g.22151650T>C GRCh37
NC_000023.9:g.22061571T>C NCBI36
NG_007563.2:g.105730T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684745.1:n.987T>C
ENST00000379374.5:c.1313T>C MANE Select ENSP00000368682.4:p.Leu438Ser
ENST00000379374.4:c.1313T>C ENSP00000368682.4:p.Leu438Ser
NM_000444.5:c.1313T>C NP_000435.3:p.Leu438Ser
NM_001282754.1:c.1313T>C NP_001269683.1:p.Leu438Ser
XM_011545533.1:c.557T>C XP_011543835.1:p.Leu186Ser
XM_011545534.1:c.557T>C XP_011543836.1:p.Leu186Ser
XM_011545535.1:c.1313T>C XP_011543837.1:p.Leu438Ser
XM_011545536.1:c.206T>C XP_011543838.1:p.Leu69Ser
XM_011545536.2:c.206T>C XP_011543838.1:p.Leu69Ser
XM_017029579.1:c.557T>C XP_016885068.1:p.Leu186Ser
XM_024452390.1:c.1022T>C XP_024308158.1:p.Leu341Ser
XR_001755695.1:n.1992T>C
NM_000444.6:c.1313T>C MANE Select NP_000435.3:p.Leu438Ser
NM_001282754.2:c.1313T>C NP_001269683.1:p.Leu438Ser
Search 100 bp 5'
Search 100 bp 3'