Canonical Allele Identifier: CA2693307399
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22190385-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22190385G>T , CM000685.2:g.22190385G>T GRCh38
NC_000023.10:g.22208502G>T , CM000685.1:g.22208502G>T GRCh37
NC_000023.9:g.22118423G>T NCBI36
NG_007563.2:g.162582G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.141-59G>T ENSP00000508003.1:n.141-59G>T
ENST00000683162.1:c.141-59G>T ENSP00000508059.1:n.141-59G>T
ENST00000683289.1:c.141-59G>T ENSP00000508195.1:n.141-59G>T
ENST00000683917.1:n.371-59G>T
ENST00000684356.1:c.141-59G>T ENSP00000507619.1:n.141-59G>T
ENST00000684745.1:n.1261-59G>T
ENST00000379374.5:c.1587-59G>T MANE Select ENSP00000368682.4:n.1587-59G>T
ENST00000379374.4:c.1587-59G>T ENSP00000368682.4:n.1587-59G>T
NM_000444.5:c.1587-59G>T NP_000435.3:n.1587-59G>T
NM_001282754.1:c.1587-59G>T NP_001269683.1:n.1587-59G>T
XM_011545533.1:c.831-59G>T XP_011543835.1:n.831-59G>T
XM_011545534.1:c.831-59G>T XP_011543836.1:n.831-59G>T
XM_011545536.1:c.480-59G>T XP_011543838.1:n.480-59G>T
XM_011545536.2:c.480-59G>T XP_011543838.1:n.480-59G>T
XM_017029579.1:c.831-59G>T XP_016885068.1:n.831-59G>T
XM_024452390.1:c.1296-59G>T XP_024308158.1:n.1296-59G>T
XR_001755695.1:n.2427-59G>T
NM_000444.6:c.1587-59G>T MANE Select NP_000435.3:n.1587-59G>T
NM_001282754.2:c.1587-59G>T NP_001269683.1:n.1587-59G>T