Canonical Allele Identifier: CA412567678

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065253T>A (hg19) ; chrX:g.22047135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047135T>A , CM000685.2:g.22047135T>A	GRCh38
NC_000023.10:g.22065253T>A , CM000685.1:g.22065253T>A	GRCh37
NC_000023.9:g.21975174T>A	NCBI36
NG_007563.2:g.19333T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.699T>A
ENST00000683214.1:n.544+14012T>A
ENST00000684143.1:c.273T>A	ENSP00000508264.1:p.Asn91Lys
ENST00000379374.5:c.273T>A MANE Select	ENSP00000368682.4:p.Asn91Lys
ENST00000379374.4:c.273T>A	ENSP00000368682.4:p.Asn91Lys
NM_000444.5:c.273T>A	NP_000435.3:p.Asn91Lys
NM_001282754.1:c.273T>A	NP_001269683.1:p.Asn91Lys
XM_011545535.1:c.273T>A	XP_011543837.1:p.Asn91Lys
XM_024452390.1:c.-19T>A	XP_024308158.1:n.-19T>A
XR_001755695.1:n.952T>A
NM_000444.6:c.273T>A MANE Select	NP_000435.3:p.Asn91Lys
NM_001282754.2:c.273T>A	NP_001269683.1:p.Asn91Lys