Canonical Allele Identifier: CA412571187

Gene: PHEX

Linked Data

• dbSNP Id: rs1386305597
• gnomAD v4: X-22076465-A-G
• MyVariant Identifiers: chrX:g.22094583A>G (hg19) ; chrX:g.22076465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076465A>G , CM000685.2:g.22076465A>G	GRCh38
NC_000023.10:g.22094583A>G , CM000685.1:g.22094583A>G	GRCh37
NC_000023.9:g.22004504A>G	NCBI36
NG_007563.2:g.48663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.853A>G
ENST00000683214.1:n.545-1011A>G
ENST00000684143.1:c.427A>G	ENSP00000508264.1:p.Met143Val
ENST00000684745.1:n.104A>G
ENST00000379374.5:c.427A>G MANE Select	ENSP00000368682.4:p.Met143Val
ENST00000379374.4:c.427A>G	ENSP00000368682.4:p.Met143Val
NM_000444.5:c.427A>G	NP_000435.3:p.Met143Val
NM_001282754.1:c.427A>G	NP_001269683.1:p.Met143Val
XM_011545535.1:c.427A>G	XP_011543837.1:p.Met143Val
XM_017029579.1:c.-93-13964A>G	XP_016885068.1:n.-93-13964A>G
XM_024452390.1:c.136A>G	XP_024308158.1:p.Met46Val
XR_001755695.1:n.1106A>G
NM_000444.6:c.427A>G MANE Select	NP_000435.3:p.Met143Val
NM_001282754.2:c.427A>G	NP_001269683.1:p.Met143Val