Canonical Allele Identifier: CA412572653

Gene: PHEX

Linked Data

• dbSNP Id: rs142755818
• gnomAD v3: X-22097008-C-G
• gnomAD v4: X-22097008-C-G
• MyVariant Identifiers: chrX:g.22115126C>G (hg19) ; chrX:g.22097008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097008C>G , CM000685.2:g.22097008C>G	GRCh38
NC_000023.10:g.22115126C>G , CM000685.1:g.22115126C>G	GRCh37
NC_000023.9:g.22025047C>G	NCBI36
NG_007563.2:g.69206C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1329C>G
ENST00000684143.1:c.900C>G	ENSP00000508264.1:p.Asn300Lys
ENST00000684745.1:n.577C>G
ENST00000379374.5:c.903C>G MANE Select	ENSP00000368682.4:p.Asn301Lys
ENST00000379374.4:c.903C>G	ENSP00000368682.4:p.Asn301Lys
ENST00000475778.1:n.176C>G
NM_000444.5:c.903C>G	NP_000435.3:p.Asn301Lys
NM_001282754.1:c.903C>G	NP_001269683.1:p.Asn301Lys
XM_011545533.1:c.147C>G	XP_011543835.1:p.Asn49Lys
XM_011545534.1:c.147C>G	XP_011543836.1:p.Asn49Lys
XM_011545535.1:c.903C>G	XP_011543837.1:p.Asn301Lys
XM_017029579.1:c.147C>G	XP_016885068.1:p.Asn49Lys
XM_024452390.1:c.612C>G	XP_024308158.1:p.Asn204Lys
XR_001755695.1:n.1582C>G
NM_000444.6:c.903C>G MANE Select	NP_000435.3:p.Asn301Lys
NM_001282754.2:c.903C>G	NP_001269683.1:p.Asn301Lys