Canonical Allele Identifier: CA2419168547
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs1602290262
gnomAD v4: X-22096867-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096867A>G , CM000685.2:g.22096867A>G GRCh38
NC_000023.10:g.22114985A>G , CM000685.1:g.22114985A>G GRCh37
NC_000023.9:g.22024906A>G NCBI36
NG_007563.2:g.69065A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1276-88A>G
ENST00000684143.1:c.847-88A>G ENSP00000508264.1:n.847-88A>G
ENST00000684745.1:n.524-88A>G
ENST00000379374.5:c.850-88A>G MANE Select ENSP00000368682.4:n.850-88A>G
ENST00000379374.4:c.850-88A>G ENSP00000368682.4:n.850-88A>G
ENST00000475778.1:n.123-88A>G
NM_000444.5:c.850-88A>G NP_000435.3:n.850-88A>G
NM_001282754.1:c.850-88A>G NP_001269683.1:n.850-88A>G
XM_011545533.1:c.94-88A>G XP_011543835.1:n.94-88A>G
XM_011545534.1:c.94-88A>G XP_011543836.1:n.94-88A>G
XM_011545535.1:c.850-88A>G XP_011543837.1:n.850-88A>G
XM_017029579.1:c.94-88A>G XP_016885068.1:n.94-88A>G
XM_024452390.1:c.559-88A>G XP_024308158.1:n.559-88A>G
XR_001755695.1:n.1529-88A>G
NM_000444.6:c.850-88A>G MANE Select NP_000435.3:n.850-88A>G
NM_001282754.2:c.850-88A>G NP_001269683.1:n.850-88A>G