Canonical Allele Identifier: CA412567496
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22047053-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047053C>T , CM000685.2:g.22047053C>T GRCh38
NC_000023.10:g.22065171C>T , CM000685.1:g.22065171C>T GRCh37
NC_000023.9:g.21975092C>T NCBI36
NG_007563.2:g.19251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.617C>T
ENST00000683214.1:n.544+13930C>T
ENST00000684143.1:c.191C>T ENSP00000508264.1:p.Ala64Val
ENST00000379374.5:c.191C>T MANE Select ENSP00000368682.4:p.Ala64Val
ENST00000379374.4:c.191C>T ENSP00000368682.4:p.Ala64Val
NM_000444.5:c.191C>T NP_000435.3:p.Ala64Val
NM_001282754.1:c.191C>T NP_001269683.1:p.Ala64Val
XM_011545535.1:c.191C>T XP_011543837.1:p.Ala64Val
XM_024452390.1:c.-101C>T XP_024308158.1:n.-101C>T
XR_001755695.1:n.870C>T
NM_000444.6:c.191C>T MANE Select NP_000435.3:p.Ala64Val
NM_001282754.2:c.191C>T NP_001269683.1:p.Ala64Val