Canonical Allele Identifier: CA412572652

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22115126C>A (hg19) ; chrX:g.22097008C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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