Canonical Allele Identifier: CA2693303835
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22032897-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032897C>T , CM000685.2:g.22032897C>T GRCh38
NC_000023.10:g.22051015C>T , CM000685.1:g.22051015C>T GRCh37
NC_000023.9:g.21960936C>T NCBI36
NG_007563.2:g.5095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.318C>T
ENST00000683214.1:n.318C>T
ENST00000684143.1:c.-109C>T ENSP00000508264.1:n.-109C>T
ENST00000379374.5:c.-109C>T MANE Select ENSP00000368682.4:n.-109C>T
ENST00000379374.4:c.-109C>T ENSP00000368682.4:n.-109C>T
NM_000444.5:c.-109C>T NP_000435.3:n.-109C>T
NM_001282754.1:c.-109C>T NP_001269683.1:n.-109C>T
XM_011545535.1:c.-109C>T XP_011543837.1:n.-109C>T
XR_001755695.1:n.571C>T
NM_000444.6:c.-109C>T MANE Select NP_000435.3:n.-109C>T
NM_001282754.2:c.-109C>T NP_001269683.1:n.-109C>T