Canonical Allele Identifier: CA2693303845
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032902-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032902G>T , CM000685.2:g.22032902G>T GRCh38
NC_000023.10:g.22051020G>T , CM000685.1:g.22051020G>T GRCh37
NC_000023.9:g.21960941G>T NCBI36
NG_007563.2:g.5100G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.323G>T
ENST00000683214.1:n.323G>T
ENST00000684143.1:c.-104G>T ENSP00000508264.1:n.-104G>T
ENST00000379374.5:c.-104G>T MANE Select ENSP00000368682.4:n.-104G>T
ENST00000379374.4:c.-104G>T ENSP00000368682.4:n.-104G>T
NM_000444.5:c.-104G>T NP_000435.3:n.-104G>T
NM_001282754.1:c.-104G>T NP_001269683.1:n.-104G>T
XM_011545535.1:c.-104G>T XP_011543837.1:n.-104G>T
XR_001755695.1:n.576G>T
NM_000444.6:c.-104G>T MANE Select NP_000435.3:n.-104G>T
NM_001282754.2:c.-104G>T NP_001269683.1:n.-104G>T