Canonical Allele Identifier: CA412567556
Gene: PHEX HGNC NCBI

Linked Data

gnomAD v4: X-22047082-G-A
MyVariant Identifiers: chrX:g.22065200G>A (hg19) chrX:g.22047082G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047082G>A , CM000685.2:g.22047082G>A GRCh38
NC_000023.10:g.22065200G>A , CM000685.1:g.22065200G>A GRCh37
NC_000023.9:g.21975121G>A NCBI36
NG_007563.2:g.19280G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.646G>A
ENST00000683214.1:n.544+13959G>A
ENST00000684143.1:c.220G>A ENSP00000508264.1:p.Val74Met
ENST00000379374.5:c.220G>A MANE Select ENSP00000368682.4:p.Val74Met
ENST00000379374.4:c.220G>A ENSP00000368682.4:p.Val74Met
NM_000444.5:c.220G>A NP_000435.3:p.Val74Met
NM_001282754.1:c.220G>A NP_001269683.1:p.Val74Met
XM_011545535.1:c.220G>A XP_011543837.1:p.Val74Met
XM_024452390.1:c.-72G>A XP_024308158.1:n.-72G>A
XR_001755695.1:n.899G>A
NM_000444.6:c.220G>A MANE Select NP_000435.3:p.Val74Met
NM_001282754.2:c.220G>A NP_001269683.1:p.Val74Met
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