Canonical Allele Identifier: CA16621321
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 424353
ClinVar RCV Id: RCV000482906
dbSNP Id: rs1064796927
MyVariant Identifiers: chrX:g.22132574A>G (hg19) chrX:g.22114456A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22114456A>G , CM000685.2:g.22114456A>G GRCh38
NC_000023.10:g.22132574A>G , CM000685.1:g.22132574A>G GRCh37
NC_000023.9:g.22042495A>G NCBI36
NG_007563.2:g.86654A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1171-2A>G ENSP00000508264.1:n.1171-2A>G
ENST00000684745.1:n.848-2A>G
ENST00000379374.5:c.1174-2A>G MANE Select ENSP00000368682.4:n.1174-2A>G
ENST00000379374.4:c.1174-2A>G ENSP00000368682.4:n.1174-2A>G
NM_000444.5:c.1174-2A>G NP_000435.3:n.1174-2A>G
NM_001282754.1:c.1174-2A>G NP_001269683.1:n.1174-2A>G
XM_011545533.1:c.418-2A>G XP_011543835.1:n.418-2A>G
XM_011545534.1:c.418-2A>G XP_011543836.1:n.418-2A>G
XM_011545535.1:c.1174-2A>G XP_011543837.1:n.1174-2A>G
XM_011545536.1:c.67-2A>G XP_011543838.1:n.67-2A>G
XM_011545536.2:c.67-2A>G XP_011543838.1:n.67-2A>G
XM_017029579.1:c.418-2A>G XP_016885068.1:n.418-2A>G
XM_024452390.1:c.883-2A>G XP_024308158.1:n.883-2A>G
XR_001755695.1:n.1853-2A>G
NM_000444.6:c.1174-2A>G MANE Select NP_000435.3:n.1174-2A>G
NM_001282754.2:c.1174-2A>G NP_001269683.1:n.1174-2A>G
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