Canonical Allele Identifier: CA412564202
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs1926873042
MyVariant Identifiers: chrX:g.22051203T>C (hg19) chrX:g.22033085T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22033085T>C , CM000685.2:g.22033085T>C GRCh38
NC_000023.10:g.22051203T>C , CM000685.1:g.22051203T>C GRCh37
NC_000023.9:g.21961124T>C NCBI36
NG_007563.2:g.5283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.506T>C
ENST00000683214.1:n.506T>C
ENST00000684143.1:c.80T>C ENSP00000508264.1:p.Val27Ala
ENST00000379374.5:c.80T>C MANE Select ENSP00000368682.4:p.Val27Ala
ENST00000379374.4:c.80T>C ENSP00000368682.4:p.Val27Ala
NM_000444.5:c.80T>C NP_000435.3:p.Val27Ala
NM_001282754.1:c.80T>C NP_001269683.1:p.Val27Ala
XM_011545535.1:c.80T>C XP_011543837.1:p.Val27Ala
XR_001755695.1:n.759T>C
NM_000444.6:c.80T>C MANE Select NP_000435.3:p.Val27Ala
NM_001282754.2:c.80T>C NP_001269683.1:p.Val27Ala
Search 100 bp 5'
Search 100 bp 3'