Canonical Allele Identifier: CA327517326
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 914503
ClinVar RCV Id: RCV001168694
dbSNP Id: rs185830047
gnomAD v2: X-22050998-C-G
gnomAD v3: X-22032880-C-G
gnomAD v4: X-22032880-C-G
MyVariant Identifiers: chrX:g.22050998C>G (hg19) chrX:g.22032880C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22032880C>G , CM000685.2:g.22032880C>G GRCh38
NC_000023.10:g.22050998C>G , CM000685.1:g.22050998C>G GRCh37
NC_000023.9:g.21960919C>G NCBI36
NG_007563.2:g.5078C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.301C>G
ENST00000683214.1:n.301C>G
ENST00000684143.1:c.-126C>G ENSP00000508264.1:n.-126C>G
ENST00000379374.5:c.-126C>G MANE Select ENSP00000368682.4:n.-126C>G
ENST00000379374.4:c.-126C>G ENSP00000368682.4:n.-126C>G
NM_000444.5:c.-126C>G NP_000435.3:n.-126C>G
NM_001282754.1:c.-126C>G NP_001269683.1:n.-126C>G
XM_011545535.1:c.-126C>G XP_011543837.1:n.-126C>G
XR_001755695.1:n.554C>G
NM_000444.6:c.-126C>G MANE Select NP_000435.3:n.-126C>G
NM_001282754.2:c.-126C>G NP_001269683.1:n.-126C>G
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