Canonical Allele Identifier: CA260501
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 36673
ClinVar RCV Id: RCV000030352
dbSNP Id: rs193922454

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133626T>G , CM000685.2:g.22133626T>G GRCh38
NC_000023.10:g.22151743T>G , CM000685.1:g.22151743T>G GRCh37
NC_000023.9:g.22061664T>G NCBI36
NG_007563.2:g.105823T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1404+2T>G MANE Select ENSP00000368682.4:p.=
ENST00000379374.4:c.1404+2T>G ENSP00000368682.4:p.=
NM_000444.5:c.1404+2T>G NP_000435.3:p.=
NM_001282754.1:c.1404+2T>G NP_001269683.1:p.=
XM_011545533.1:c.648+2T>G XP_011543835.1:p.=
XM_011545534.1:c.648+2T>G XP_011543836.1:p.=
XM_011545535.1:c.1404+2T>G XP_011543837.1:p.=
XM_011545536.1:c.297+2T>G XP_011543838.1:p.=
XM_011545536.2:c.297+2T>G XP_011543838.1:p.=
XM_017029579.1:c.648+2T>G XP_016885068.1:p.=
XM_024452390.1:c.1113+2T>G XP_024308158.1:p.=
XR_001755695.1:n.2083+2T>G
NM_000444.6:c.1404+2T>G MANE Select NP_000435.3:p.=
NM_001282754.2:c.1404+2T>G NP_001269683.1:p.=